RGD:156054735 Rat Genome Database

RGD:156054735 Rat Genome Database

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Variant: RGD:156054735 - Homo sapiens

RGD ID:

156054735

ClinVar ID:

CV2393100

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

KRT8

Reference Nucleotide:

G

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	12	53,291,330
GRCh38	12	52,897,546

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001256293.2:c.1334C>G NM_002273.4:c.1334C>G NM_001256282.2:c.1418C>G NG_008402.2:g.57321C>G More...	12/14/2022	missense variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	KRT8
Accession:	NM_002273
Location:	EXON
Amino Acid Prediction:	S to C (nonsynonymous)
Amino Acid Position:	445

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSIRVTQKSYKVSTSGPRAFSSRSYTSGPGSRISSSSFSRVGSSNFRGGLGGGYGGASGMGGITAVTVNQSLLSPLVLEV DPNIQAVRTQEKEQIKTLNNKFASFIDKVRFLEQQNKMLETKWSLLQQQKTARSNMDNMFESYINNLRRQLETLGQEKLK LEAELGNMQGLVEDFKNKYEDEINKRTEMENEFVLIKKDVDEAYMNKVELESRLEGLTDEINFLRQLYEEEIRELQSQIS DTSVVLSMDNSRSLDMDSIIAEVKAQYEDIANRSRAEAESMYQIKYEELQSLAGKHGDDLRRTKTEISEMNRNISRLQAE IEGLKGQRASLEAAIADAEQRGELAIKDANAKLSELEAALQRAKQDMARQLREYQELMNVKLALDIEIATYRKLLEGEES RLESGMQNMSIHTKTTSGYAGGLSSAYGGLTSPGLSYSLGSSFGCGAGSSSFSRTSSSRAVVVKKIETRDGKLVSESSDV LPK*

Gene Symbol:	KRT8
Accession:	NM_001256293
Location:	EXON
Amino Acid Prediction:	S to C (nonsynonymous)
Amino Acid Position:	445

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSIRVTQKSYKVSTSGPRAFSSRSYTSGPGSRISSSSFSRVGSSNFRGGLGGGYGGASGMGGITAVTVNQSLLSPLVLEV DPNIQAVRTQEKEQIKTLNNKFASFIDKVRFLEQQNKMLETKWSLLQQQKTARSNMDNMFESYINNLRRQLETLGQEKLK LEAELGNMQGLVEDFKNKYEDEINKRTEMENEFVLIKKDVDEAYMNKVELESRLEGLTDEINFLRQLYEEEIRELQSQIS DTSVVLSMDNSRSLDMDSIIAEVKAQYEDIANRSRAEAESMYQIKYEELQSLAGKHGDDLRRTKTEISEMNRNISRLQAE IEGLKGQRASLEAAIADAEQRGELAIKDANAKLSELEAALQRAKQDMARQLREYQELMNVKLALDIEIATYRKLLEGEES RLESGMQNMSIHTKTTSGYAGGLSSAYGGLTSPGLSYSLGSSFGCGAGSSSFSRTSSSRAVVVKKIETRDGKLVSESSDV LPK*

Gene Symbol:	KRT8
Accession:	NM_001256282
Location:	EXON
Amino Acid Prediction:	S to C (nonsynonymous)
Amino Acid Position:	473

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNGVSWSQDLQEGISAWFGPPASTPASTMSIRVTQKSYKVSTSGPRAFSSRSYTSGPGSRISSSSFSRVGSSNFRGGLGG GYGGASGMGGITAVTVNQSLLSPLVLEVDPNIQAVRTQEKEQIKTLNNKFASFIDKVRFLEQQNKMLETKWSLLQQQKTA RSNMDNMFESYINNLRRQLETLGQEKLKLEAELGNMQGLVEDFKNKYEDEINKRTEMENEFVLIKKDVDEAYMNKVELES RLEGLTDEINFLRQLYEEEIRELQSQISDTSVVLSMDNSRSLDMDSIIAEVKAQYEDIANRSRAEAESMYQIKYEELQSL AGKHGDDLRRTKTEISEMNRNISRLQAEIEGLKGQRASLEAAIADAEQRGELAIKDANAKLSELEAALQRAKQDMARQLR EYQELMNVKLALDIEIATYRKLLEGEESRLESGMQNMSIHTKTTSGYAGGLSSAYGGLTSPGLSYSLGSSFGCGAGSSSF SRTSSSRAVVVKKIETRDGKLVSESSDVLPK*

Gene Symbol:	KRT8
Accession:	NR_045962
Location:	EXON;NON-CODING

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004226583	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	KRT8	CLINVAR
OMIM	148060	CLINVAR