Varaico: Literature-Extracted Genetic Variants

Gene:KRT14
Variant:p.G71V

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.G71V
c.212G>T
Surrounding Variants
1 paper
NM_000526.5
p.G71A
c.212G>C
1 paper
NM_000526.5
p.G71D
c.212G>A
1 paper
NM_000526.5
p.G71S
c.211G>A
1 paper
NM_000526.5
p.S58_G70del13
c.172_209del39
1 paper
NM_000526.5
p.G71delFs
c.213delA
1 paper
NM_000526.5
p.G72V
c.215G>T
1 paper
NM_000526.5
p.G72D
c.215G>A
1 paper
NM_000526.5
p.G70R
c.208G>C
2 papers
NM_000526.5
p.G70S
c.208G>A
1 paper
NM_000526.5
p.Y69C
c.206A>G
1 paper
NM_000526.5
p.S74I
c.221G>T
1 paper
NM_000526.5
p.S74insFs
c.221_222insA
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