Varaico: Literature-Extracted Genetic Variants

Gene:KRT14
Variant:p.G49S

KRT14

650 papers

RefSeq Summary

This gene encodes a member of the keratin family, the most diverse group of intermediate filaments. This gene product, a type I keratin, is usually found as a heterotetramer with two keratin 5 molecul...

Pfam Domains

Filamentaa 114–425UCSCIntermediate filament protein

Gene Aliases

HGNC Name

keratin 14

HGNC Previous Symbols

EBS3; EBS4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000526.5
p.G49S
c.145G>A
Surrounding Variants
1 paper
NM_000526.5
p.G48insFs
c.143dupG
1 paper
NM_000526.5
p.G48V
c.143G>T
1 paper
NM_000526.5
p.G48A
c.143G>C
1 paper
NM_000526.5
p.G49fs
c.145_146fs
1 paper
NM_000526.5
p.G49G
c.147C>A
1 paper
NM_000526.5
p.G47V
c.140G>T
1 paper
NM_000526.5
p.S51P
c.151T>C
2 papers
NM_000526.5
p.G47R
c.139G>C
2 papers
NM_000526.5
p.G47R
c.139G>A
1 paper
NM_000526.5
p.S51C
c.152C>G
1 paper
NM_000526.5
p.V52I
c.154G>A
2 papers
NM_000526.5
p.T45I
c.134C>T
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