Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS | | IAGP | | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS | | IAGP | | 7240710 | | OMIM | | |
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# | Reference Title | Reference Citation |
1. | Physiology and pathophysiology of the vasopressin-regulated renal water reabsorption. | Boone M and Deen PM, Pflugers Arch. 2008 Sep;456(6):1005-24. Epub 2008 Apr 23. |
2. | The GLUT4 code. | Larance M, etal., Mol Endocrinol. 2008 Feb;22(2):226-33. Epub 2007 Aug 23. |
3. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
4. | PID Annotation Import Pipeline | Pipeline to import Pathway Interaction Database annotations from NCI into RGD |
5. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
6. | Mechanisms of biphasic insulin-granule exocytosis - roles of the cytoskeleton, small GTPases and SNARE proteins. | Wang Z and Thurmond DC, J Cell Sci. 2009 Apr 1;122(Pt 7):893-903. |
7. | Insulin action on glucose transporters through molecular switches, tracks and tethers. | Zaid H, etal., Biochem J. 2008 Jul 15;413(2):201-15. |
PMID:1976629 | PMID:7499863 | PMID:7553862 | PMID:7622514 | PMID:7835332 | PMID:7961655 | PMID:8011337 | PMID:8071310 | PMID:8125298 | PMID:8760387 | PMID:8770861 | PMID:8973549 |
PMID:8999968 | PMID:9030619 | PMID:9341137 | PMID:9396746 | PMID:9657962 | PMID:9658161 | PMID:9817754 | PMID:9920726 | PMID:10036234 | PMID:10099709 | PMID:10100611 | PMID:10194441 |
PMID:10336434 | PMID:10370136 | PMID:10449403 | PMID:10481273 | PMID:10662545 | PMID:10713150 | PMID:10820264 | PMID:10965122 | PMID:11031247 | PMID:11101518 | PMID:11252894 | PMID:11278762 |
PMID:11295657 | PMID:11524423 | PMID:11786915 | PMID:11832227 | PMID:11842301 | PMID:11994746 | PMID:12093152 | PMID:12130530 | PMID:12181340 | PMID:12200427 | PMID:12417022 | PMID:12477932 |
PMID:12485399 | PMID:12517971 | PMID:12730201 | PMID:12750892 | PMID:12773094 | PMID:12828989 | PMID:12832401 | PMID:12847087 | PMID:12853575 | PMID:12855681 | PMID:14702039 | PMID:15217342 |
PMID:15327778 | PMID:15610015 | PMID:16195891 | PMID:16677249 | PMID:17001002 | PMID:17196367 | PMID:17207965 | PMID:17255364 | PMID:17313651 | PMID:17331077 | PMID:17356306 | PMID:18042464 |
PMID:18182011 | PMID:18253931 | PMID:18511417 | PMID:18511418 | PMID:18512733 | PMID:18628682 | PMID:19478182 | PMID:19543288 | PMID:19546860 | PMID:19557857 | PMID:19822142 | PMID:20416077 |
PMID:20471030 | PMID:20676083 | PMID:20798282 | PMID:21565611 | PMID:21808019 | PMID:21873635 | PMID:22118466 | PMID:22144578 | PMID:22172278 | PMID:22375059 | PMID:22645275 | PMID:22890573 |
PMID:22939629 | PMID:22956769 | PMID:23100443 | PMID:23376485 | PMID:23897890 | PMID:24164654 | PMID:24623722 | PMID:24878716 | PMID:25416956 | PMID:25445064 | PMID:25481410 | PMID:26134228 |
PMID:26186194 | PMID:26344197 | PMID:26412491 | PMID:26496610 | PMID:26617273 | PMID:26635000 | PMID:26638075 | PMID:26639969 | PMID:26794648 | PMID:27247366 | PMID:27345149 | PMID:27458546 |
PMID:27616736 | PMID:27762274 | PMID:27791468 | PMID:27880917 | PMID:28495859 | PMID:28514442 | PMID:29328362 | PMID:29358308 | PMID:29360461 | PMID:29568061 | PMID:29608598 | PMID:29997244 |
PMID:30194290 | PMID:30217970 | PMID:30582321 | PMID:30639242 | PMID:30721745 | PMID:30929742 | PMID:31110017 | PMID:31638250 | PMID:31686426 | PMID:31732153 | PMID:31871319 | PMID:32194132 |
PMID:32296183 | PMID:32393512 | PMID:32580088 | PMID:32675412 | PMID:32812023 | PMID:32814053 | PMID:33217562 | PMID:33845483 | PMID:33961781 | PMID:34079125 | PMID:34183050 | PMID:34190041 |
PMID:34432599 | PMID:34709727 | PMID:35068871 | PMID:35271311 | PMID:36215168 | PMID:36380732 | PMID:37380951 | PMID:37898760 | PMID:38117590 |
VAMP2 (Homo sapiens - human) |
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Vamp2 (Mus musculus - house mouse) |
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Vamp2 (Rattus norvegicus - Norway rat) |
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Vamp2 (Chinchilla lanigera - long-tailed chinchilla) |
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VAMP2 (Pan paniscus - bonobo/pygmy chimpanzee) |
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VAMP2 (Canis lupus familiaris - dog) |
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Vamp2 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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VAMP2 (Sus scrofa - pig) |
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VAMP2 (Chlorocebus sabaeus - green monkey) |
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Vamp2 (Heterocephalus glaber - naked mole-rat) |
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Variants in VAMP2
20 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 17p13.1(chr17:6958978-8335684)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052457]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052457]|See cases [RCV000052457] | Chr17:6958978..8335684 [GRCh38] Chr17:6862297..8239002 [GRCh37] Chr17:6803021..8179727 [NCBI36] Chr17:17p13.1 |
pathogenic |
GRCh38/hg38 17p13.1(chr17:7750804-10112969)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052460]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052460]|See cases [RCV000052460] | Chr17:7750804..10112969 [GRCh38] Chr17:7654122..10016286 [GRCh37] Chr17:7594847..9957011 [NCBI36] Chr17:17p13.1 |
pathogenic |
GRCh38/hg38 17p13.2-13.1(chr17:6307904-8842949)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053407]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053407]|See cases [RCV000053407] | Chr17:6307904..8842949 [GRCh38] Chr17:6211224..8746266 [GRCh37] Chr17:6151948..8686991 [NCBI36] Chr17:17p13.2-13.1 |
pathogenic |
GRCh38/hg38 17p13.1(chr17:7478195-8435524)x1 | copy number loss | See cases [RCV000053426] | Chr17:7478195..8435524 [GRCh38] Chr17:7381514..8338842 [GRCh37] Chr17:7322238..8279567 [NCBI36] Chr17:17p13.1 |
pathogenic |
NM_014232.3(VAMP2):c.197G>A (p.Arg66His) | single nucleotide variant | not provided [RCV003221560] | Chr17:8161693 [GRCh38] Chr17:8065011 [GRCh37] Chr17:17p13.1 |
uncertain significance |
GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3 | copy number gain | See cases [RCV000134851] | Chr17:5732953..12095349 [GRCh38] Chr17:5636273..11998666 [GRCh37] Chr17:5576997..11939391 [NCBI36] Chr17:17p13.2-12 |
pathogenic |
GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3 | copy number gain | See cases [RCV000138531] | Chr17:162016..12343901 [GRCh38] Chr17:45835..12247218 [GRCh37] Chr17:11807..12187943 [NCBI36] Chr17:17p13.3-12 |
pathogenic |
GRCh38/hg38 17p13.1(chr17:7967712-8490279)x3 | copy number gain | See cases [RCV000141063] | Chr17:7967712..8490279 [GRCh38] Chr17:7871030..8393597 [GRCh37] Chr17:7811755..8334322 [NCBI36] Chr17:17p13.1 |
uncertain significance |
GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3 | copy number gain | See cases [RCV000142236] | Chr17:150732..14764202 [GRCh38] Chr17:525..14667519 [GRCh37] Chr17:525..14608244 [NCBI36] Chr17:17p13.3-12 |
pathogenic |
NM_014232.3(VAMP2):c.217G>T (p.Gly73Trp) | single nucleotide variant | not provided [RCV001194648] | Chr17:8161673 [GRCh38] Chr17:8064991 [GRCh37] Chr17:17p13.1 |
likely pathogenic |
NM_014232.3(VAMP2):c.167G>T (p.Arg56Leu) | single nucleotide variant | not provided [RCV001194650] | Chr17:8161723 [GRCh38] Chr17:8065041 [GRCh37] Chr17:17p13.1 |
likely pathogenic |
NM_014232.3(VAMP2):c.337_341del (p.Tyr113fs) | deletion | not provided [RCV001194651] | Chr17:8160865..8160869 [GRCh38] Chr17:8064183..8064187 [GRCh37] Chr17:17p13.1 |
likely pathogenic |
GRCh37/hg19 17p13.1(chr17:8020196-8157327)x3 | copy number gain | Breast ductal adenocarcinoma [RCV000207207] | Chr17:8020196..8157327 [GRCh37] Chr17:17p13.1 |
uncertain significance |
GRCh37/hg19 17p13.1(chr17:8017865-8135384)x3 | copy number gain | Breast ductal adenocarcinoma [RCV000207039] | Chr17:8017865..8135384 [GRCh37] Chr17:17p13.1 |
uncertain significance |
GRCh37/hg19 17p13.1(chr17:7966164-8338622)x3 | copy number gain | See cases [RCV000447606] | Chr17:7966164..8338622 [GRCh37] Chr17:17p13.1 |
uncertain significance |
GRCh37/hg19 17p13.1(chr17:7241916-8692213)x1 | copy number loss | See cases [RCV000445992] | Chr17:7241916..8692213 [GRCh37] Chr17:17p13.1 |
pathogenic |
GRCh37/hg19 17p13.1(chr17:7929776-9995862)x3 | copy number gain | See cases [RCV000447853] | Chr17:7929776..9995862 [GRCh37] Chr17:17p13.1 |
uncertain significance |
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) | copy number gain | See cases [RCV000511439] | Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.1(chr17:7431013-9868179)x3 | copy number gain | See cases [RCV000511388] | Chr17:7431013..9868179 [GRCh37] Chr17:17p13.1 |
uncertain significance |
GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3 | copy number gain | See cases [RCV000511786] | Chr17:525..15027737 [GRCh37] Chr17:17p13.3-12 |
pathogenic |
NC_000017.11:g.(?_7669603)_(8382316_?)del | deletion | Diamond-Blackfan anemia [RCV000538057]|Dyskeratosis congenita [RCV001382188]|Li-Fraumeni syndrome [RCV003105948] | Chr17:7669603..8382316 [GRCh38] Chr17:7572921..8285634 [GRCh37] Chr17:17p13.1 |
pathogenic |
GRCh37/hg19 17p13.1(chr17:6934163-8217978)x1 | copy number loss | Poly (ADP-Ribose) polymerase inhibitor response [RCV000626431] | Chr17:6934163..8217978 [GRCh37] Chr17:17p13.1 |
drug response |
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 | copy number gain | See cases [RCV000512441] | Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3 | copy number gain | not provided [RCV000683866] | Chr17:525..11186432 [GRCh37] Chr17:17p13.3-12 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 | copy number gain | not provided [RCV000739320] | Chr17:7214..81058310 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 | copy number gain | not provided [RCV000739325] | Chr17:12344..81057996 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 | copy number gain | not provided [RCV000739324] | Chr17:8547..81060040 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.1(chr17:8044101-8068763)x1 | copy number loss | not provided [RCV000739396] | Chr17:8044101..8068763 [GRCh37] Chr17:17p13.1 |
benign |
GRCh37/hg19 17p13.1(chr17:8044148-8076916)x1 | copy number loss | not provided [RCV000739397] | Chr17:8044148..8076916 [GRCh37] Chr17:17p13.1 |
benign |
GRCh37/hg19 17p13.1(chr17:8044148-8125042)x1 | copy number loss | not provided [RCV000739398] | Chr17:8044148..8125042 [GRCh37] Chr17:17p13.1 |
benign |
NC_000017.10:g.(?_6589506)_(8151374_?)dup | duplication | Common variable immunodeficiency [RCV001338841]|Dyskeratosis congenita [RCV001031775] | Chr17:6589506..8151374 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_014232.3(VAMP2):c.128_130del | microsatellite | Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements [RCV000999497]|Severe neurodevelopmental delay [RCV000824682] | Chr17:8161760..8161762 [GRCh38] Chr17:8065078..8065080 [GRCh37] Chr17:17p13.1 |
pathogenic |
NM_014232.3:c.128_130del AND NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA | deletion | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS [RCV000999497] | pathogenic | |
NM_014232.3(VAMP2):c.132CAT[1] (p.Ile45del) | microsatellite | Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements [RCV000999498] | Chr17:8161753..8161755 [GRCh38] Chr17:8065071..8065073 [GRCh37] Chr17:17p13.1 |
pathogenic |
GRCh37/hg19 17p13.1(chr17:7676383-8350870)x3 | copy number gain | not provided [RCV000848522] | Chr17:7676383..8350870 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NC_000017.11:g.(?_7669599)_(8382320_?)del | deletion | Li-Fraumeni syndrome [RCV000803922] | Chr17:7669599..8382320 [GRCh38] Chr17:7572917..8285638 [GRCh37] Chr17:17p13.1 |
pathogenic |
NM_014232.3(VAMP2):c.230T>C (p.Phe77Ser) | single nucleotide variant | Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements [RCV000999496] | Chr17:8161660 [GRCh38] Chr17:8064978 [GRCh37] Chr17:17p13.1 |
pathogenic |
NM_014232.3(VAMP2):c.166C>T (p.Arg56Ter) | single nucleotide variant | not provided [RCV001194647] | Chr17:8161724 [GRCh38] Chr17:8065042 [GRCh37] Chr17:17p13.1 |
pathogenic |
NM_014232.3(VAMP2):c.223T>C (p.Ser75Pro) | single nucleotide variant | Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements [RCV000999494] | Chr17:8161667 [GRCh38] Chr17:8064985 [GRCh37] Chr17:17p13.1 |
pathogenic |
NM_014232.3(VAMP2):c.233A>C (p.Glu78Ala) | single nucleotide variant | Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements [RCV000999495] | Chr17:8161657 [GRCh38] Chr17:8064975 [GRCh37] Chr17:17p13.1 |
pathogenic |
NM_014232.3(VAMP2):c.1A>G (p.Met1Val) | single nucleotide variant | not provided [RCV001194649] | Chr17:8162879 [GRCh38] Chr17:8066197 [GRCh37] Chr17:17p13.1 |
pathogenic |
GRCh37/hg19 17p13.1(chr17:7937691-8247776)x3 | copy number gain | not provided [RCV001006868] | Chr17:7937691..8247776 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_014232.3(VAMP2):c.221C>T (p.Ala74Val) | single nucleotide variant | Inborn genetic diseases [RCV001265983]|Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements [RCV001310231] | Chr17:8161669 [GRCh38] Chr17:8064987 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_014232.3(VAMP2):c.334+12G>C | single nucleotide variant | Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements [RCV002243461]|not provided [RCV001779713] | Chr17:8161461 [GRCh38] Chr17:8064779 [GRCh37] Chr17:17p13.1 |
benign |
NM_014232.3(VAMP2):c.38C>T (p.Pro13Leu) | single nucleotide variant | not provided [RCV001767816] | Chr17:8162334 [GRCh38] Chr17:8065652 [GRCh37] Chr17:17p13.1 |
uncertain significance |
GRCh37/hg19 17p13.1(chr17:7020054-8086290) | copy number loss | not specified [RCV002052585] | Chr17:7020054..8086290 [GRCh37] Chr17:17p13.1 |
pathogenic |
GRCh37/hg19 17p13.1(chr17:7241916-8692213) | copy number loss | not specified [RCV002052586] | Chr17:7241916..8692213 [GRCh37] Chr17:17p13.1 |
pathogenic |
NM_014232.3(VAMP2):c.124-1G>C | single nucleotide variant | not provided [RCV001946052] | Chr17:8161767 [GRCh38] Chr17:8065085 [GRCh37] Chr17:17p13.1 |
uncertain significance |
GRCh37/hg19 17p13.1(chr17:7929776-9995862) | copy number gain | not specified [RCV002052588] | Chr17:7929776..9995862 [GRCh37] Chr17:17p13.1 |
uncertain significance |
GRCh37/hg19 17p13.1(chr17:7593552-8225803) | copy number gain | not specified [RCV002052587] | Chr17:7593552..8225803 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NC_000017.10:g.(?_7571752)_(8135555_?)del | deletion | Li-Fraumeni syndrome [RCV003107874] | Chr17:7571752..8135555 [GRCh37] Chr17:17p13.1 |
pathogenic|uncertain significance |
NC_000017.10:g.(?_7120455)_(8151423_?)del | deletion | Li-Fraumeni syndrome [RCV003111420] | Chr17:7120455..8151423 [GRCh37] Chr17:17p13.1 |
pathogenic |
NC_000017.10:g.(?_7571752)_(8285628_?)del | deletion | Li-Fraumeni syndrome [RCV003111422] | Chr17:7571752..8285628 [GRCh37] Chr17:17p13.1 |
pathogenic |
NM_014232.3(VAMP2):c.60del (p.Ala21fs) | deletion | Neurodevelopmental disorder [RCV002277692] | Chr17:8162312 [GRCh38] Chr17:8065630 [GRCh37] Chr17:17p13.1 |
uncertain significance |
GRCh37/hg19 17p13.1(chr17:7381537-8068400)x3 | copy number gain | not provided [RCV002474996] | Chr17:7381537..8068400 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_014232.3(VAMP2):c.37C>T (p.Pro13Ser) | single nucleotide variant | Inborn genetic diseases [RCV002912410] | Chr17:8162335 [GRCh38] Chr17:8065653 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_014232.3(VAMP2):c.124-3C>T | single nucleotide variant | Inborn genetic diseases [RCV002717417]|VAMP2-related condition [RCV003936644] | Chr17:8161769 [GRCh38] Chr17:8065087 [GRCh37] Chr17:17p13.1 |
likely benign |
NM_014232.3(VAMP2):c.13G>A (p.Ala5Thr) | single nucleotide variant | Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements [RCV003139260] | Chr17:8162359 [GRCh38] Chr17:8065677 [GRCh37] Chr17:17p13.1 |
uncertain significance |
GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3 | copy number gain | Chromosome 17p13.3 duplication syndrome [RCV003327726] | Chr17:165730..11404096 [GRCh38] Chr17:17p13.3-12 |
pathogenic |
NM_014232.3(VAMP2):c.256C>T (p.Arg86Cys) | single nucleotide variant | not provided [RCV003332731] | Chr17:8161634 [GRCh38] Chr17:8064952 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_014232.3(VAMP2):c.8C>T (p.Ala3Val) | single nucleotide variant | Inborn genetic diseases [RCV003385696] | Chr17:8162364 [GRCh38] Chr17:8065682 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_014232.3(VAMP2):c.328A>C (p.Ile110Leu) | single nucleotide variant | not provided [RCV003456971] | Chr17:8161479 [GRCh38] Chr17:8064797 [GRCh37] Chr17:17p13.1 |
uncertain significance |
Single allele | duplication | not provided [RCV003448671] | Chr17:7709286..8297901 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_014232.3(VAMP2):c.294C>T (p.Ile98=) | single nucleotide variant | not provided [RCV003428132] | Chr17:8161513 [GRCh38] Chr17:8064831 [GRCh37] Chr17:17p13.1 |
likely benign |
NM_014232.3(VAMP2):c.200C>T (p.Ala67Val) | single nucleotide variant | not provided [RCV003413145] | Chr17:8161690 [GRCh38] Chr17:8065008 [GRCh37] Chr17:17p13.1 |
uncertain significance |
GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3 | copy number gain | not specified [RCV003987215] | Chr17:525..21510992 [GRCh37] Chr17:17p13.3-11.2 |
pathogenic |
NM_014232.3(VAMP2):c.65C>T (p.Pro22Leu) | single nucleotide variant | VAMP2-related condition [RCV003901588] | Chr17:8162307 [GRCh38] Chr17:8065625 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_014232.3(VAMP2):c.183G>A (p.Ser61=) | single nucleotide variant | VAMP2-related condition [RCV003926868] | Chr17:8161707 [GRCh38] Chr17:8065025 [GRCh37] Chr17:17p13.1 |
likely benign |
NM_014232.3(VAMP2):c.309C>T (p.Cys103=) | single nucleotide variant | not provided [RCV003884194] | Chr17:8161498 [GRCh38] Chr17:8064816 [GRCh37] Chr17:17p13.1 |
likely benign |
NM_014232.3(VAMP2):c.147C>T (p.Asn49=) | single nucleotide variant | VAMP2-related condition [RCV003971652] | Chr17:8161743 [GRCh38] Chr17:8065061 [GRCh37] Chr17:17p13.1 |
likely benign |
NC_000017.10:g.(?_7123304)_(8193254_?)del | deletion | Very long chain acyl-CoA dehydrogenase deficiency [RCV003119081] | Chr17:7123304..8193254 [GRCh37] Chr17:17p13.1 |
pathogenic |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
RH55329 |
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RH44899 |
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WIAF-1699 |
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alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | sensory system | visual system | adipose tissue | appendage | entire extraembryonic component | pharyngeal arch | |
High | 2 | |||||||||||||||||
Medium | 2428 | 2977 | 1700 | 599 | 1932 | 440 | 4352 | 2188 | 3730 | 414 | 1449 | 1611 | 174 | 1 | 1204 | 2787 | 5 | 2 |
Low | 11 | 14 | 26 | 25 | 19 | 25 | 5 | 9 | 2 | 5 | 11 | 2 | 1 | 1 | ||||
Below cutoff |
RefSeq Transcripts | NM_001330125 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_014232 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC129492 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AF135372 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AH002993 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AJ225044 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK021522 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK225777 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK289555 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL050223 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC002737 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC019608 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC033870 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BU625107 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471108 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068261 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000316509 ⟹ ENSP00000314214 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000404970 ⟹ ENSP00000466995 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000481878 ⟹ ENSP00000467399 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000488857 ⟹ ENSP00000418572 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000711100 ⟹ ENSP00000518578 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001330125 ⟹ NP_001317054 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_014232 ⟹ NP_055047 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_001317054 | (Get FASTA) | NCBI Sequence Viewer |
NP_055047 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAA60604 | (Get FASTA) | NCBI Sequence Viewer |
AAF15551 | (Get FASTA) | NCBI Sequence Viewer | |
AAH02737 | (Get FASTA) | NCBI Sequence Viewer | |
AAH19608 | (Get FASTA) | NCBI Sequence Viewer | |
AAH33870 | (Get FASTA) | NCBI Sequence Viewer | |
BAF82244 | (Get FASTA) | NCBI Sequence Viewer | |
CAA12385 | (Get FASTA) | NCBI Sequence Viewer | |
CAH10733 | (Get FASTA) | NCBI Sequence Viewer | |
EAW90086 | (Get FASTA) | NCBI Sequence Viewer | |
EAW90087 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000314214 | ||
ENSP00000314214.6 | |||
ENSP00000418572 | |||
ENSP00000418572.1 | |||
ENSP00000466995.1 | |||
ENSP00000467399.1 | |||
ENSP00000518578.1 | |||
GenBank Protein | P63027 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_055047 ⟸ NM_014232 |
- Peptide Label: | isoform 1 |
- UniProtKB: | P19065 (UniProtKB/Swiss-Prot), Q9BUC2 (UniProtKB/Swiss-Prot), P63027 (UniProtKB/Swiss-Prot), J3QRU4 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001317054 ⟸ NM_001330125 |
- Peptide Label: | isoform 2 |
- UniProtKB: | F8WCA0 (UniProtKB/TrEMBL), J3QRU4 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSP00000467399 ⟸ ENST00000481878 |
RefSeq Acc Id: | ENSP00000466995 ⟸ ENST00000404970 |
RefSeq Acc Id: | ENSP00000314214 ⟸ ENST00000316509 |
RefSeq Acc Id: | ENSP00000418572 ⟸ ENST00000488857 |
RefSeq Acc Id: | ENSP00000518578 ⟸ ENST00000711100 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-P63027-F1-model_v2 | AlphaFold | P63027 | 1-116 | view protein structure |
RGD ID: | 6811385 | ||||||||
Promoter ID: | HG_ACW:33013 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | K562 | ||||||||
Transcripts: | VAMP2ANDPER1.TAPR07-UNSPLICED | ||||||||
Position: |
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RGD ID: | 6811384 | ||||||||
Promoter ID: | HG_ACW:33014 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | VAMP2ANDPER1.BAPR07, VAMP2ANDPER1.MAPR07, VAMP2ANDPER1.QAPR07 | ||||||||
Position: |
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RGD ID: | 6814632 | ||||||||
Promoter ID: | HG_XEF:3253 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | K562, Lymphoblastoid | ||||||||
Transcripts: | NM_001039486, NM_001087474, NM_200005, NM_214630 | ||||||||
Position: |
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RGD ID: | 6794740 | ||||||||
Promoter ID: | HG_KWN:24945 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, HeLa_S3, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | ENST00000316509, ENST00000396305, ENST00000396308, OTTHUMT00000317119, OTTHUMT00000317121, OTTHUMT00000317122 | ||||||||
Position: |
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RGD ID: | 7233897 | ||||||||
Promoter ID: | EPDNEW_H22694 | ||||||||
Type: | initiation region | ||||||||
Name: | VAMP2_5 | ||||||||
Description: | vesicle associated membrane protein 2 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H22695 EPDNEW_H22697 EPDNEW_H22696 EPDNEW_H22698 EPDNEW_H22699 EPDNEW_H22702 | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
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RGD ID: | 7233899 | ||||||||
Promoter ID: | EPDNEW_H22695 | ||||||||
Type: | initiation region | ||||||||
Name: | VAMP2_4 | ||||||||
Description: | vesicle associated membrane protein 2 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H22694 EPDNEW_H22697 EPDNEW_H22696 EPDNEW_H22698 EPDNEW_H22699 EPDNEW_H22702 | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
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RGD ID: | 7233903 | ||||||||
Promoter ID: | EPDNEW_H22696 | ||||||||
Type: | initiation region | ||||||||
Name: | VAMP2_7 | ||||||||
Description: | vesicle associated membrane protein 2 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H22694 EPDNEW_H22695 EPDNEW_H22697 EPDNEW_H22698 EPDNEW_H22699 EPDNEW_H22702 | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
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RGD ID: | 7233901 | ||||||||
Promoter ID: | EPDNEW_H22697 | ||||||||
Type: | initiation region | ||||||||
Name: | VAMP2_3 | ||||||||
Description: | vesicle associated membrane protein 2 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H22694 EPDNEW_H22695 EPDNEW_H22696 EPDNEW_H22698 EPDNEW_H22699 EPDNEW_H22702 | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
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RGD ID: | 7233905 | ||||||||
Promoter ID: | EPDNEW_H22698 | ||||||||
Type: | initiation region | ||||||||
Name: | VAMP2_6 | ||||||||
Description: | vesicle associated membrane protein 2 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H22694 EPDNEW_H22695 EPDNEW_H22697 EPDNEW_H22696 EPDNEW_H22699 EPDNEW_H22702 | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
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RGD ID: | 7233907 | ||||||||
Promoter ID: | EPDNEW_H22699 | ||||||||
Type: | initiation region | ||||||||
Name: | VAMP2_1 | ||||||||
Description: | vesicle associated membrane protein 2 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H22694 EPDNEW_H22695 EPDNEW_H22697 EPDNEW_H22696 EPDNEW_H22698 EPDNEW_H22702 | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | HGNC:12643 | AgrOrtholog |
COSMIC | VAMP2 | COSMIC |
Ensembl Genes | ENSG00000220205 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000316509 | ENTREZGENE |
ENST00000316509.11 | UniProtKB/Swiss-Prot | |
ENST00000404970.3 | UniProtKB/TrEMBL | |
ENST00000481878.1 | UniProtKB/TrEMBL | |
ENST00000488857 | ENTREZGENE | |
ENST00000488857.5 | UniProtKB/TrEMBL | |
ENST00000711100.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.20.5.110 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000220205 | GTEx |
HGNC ID | HGNC:12643 | ENTREZGENE |
Human Proteome Map | VAMP2 | Human Proteome Map |
InterPro | Synaptobrevin | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Synaptobrevin/VAMP | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
V_SNARE_CC | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:6844 | UniProtKB/Swiss-Prot |
NCBI Gene | 6844 | ENTREZGENE |
OMIM | 185881 | OMIM |
PANTHER | PTHR45701 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR45701:SF5 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | Synaptobrevin | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA37267 | PharmGKB |
PIRSF | Synaptobrevin_euk | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PRINTS | SYNAPTOBREVN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PROSITE | SYNAPTOBREVIN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
V_SNARE | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Superfamily-SCOP | SNARE fusion complex | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A0AA34QW14_HUMAN | UniProtKB/TrEMBL |
F8WCA0 | ENTREZGENE, UniProtKB/TrEMBL | |
J3QRU4 | ENTREZGENE, UniProtKB/TrEMBL | |
K7ENK9_HUMAN | UniProtKB/TrEMBL | |
P19065 | ENTREZGENE | |
P63027 | ENTREZGENE | |
Q9BUC2 | ENTREZGENE | |
VAMP2_HUMAN | UniProtKB/Swiss-Prot | |
UniProt Secondary | P19065 | UniProtKB/Swiss-Prot |
Q9BUC2 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2015-11-10 | VAMP2 | vesicle associated membrane protein 2 | VAMP2 | vesicle-associated membrane protein 2 (synaptobrevin 2) | Symbol and/or name change | 5135510 | APPROVED |