Varaico: Literature-Extracted Genetic Variants

Gene:KRT4
Variant:p.A72V

KRT4

106 papers

RefSeq Summary

The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpre...

Pfam Domains

Keratin_2_headaa 14–78UCSCKeratin type II head
Keratin_2_headaa 66–133UCSCKeratin type II head
Filamentaa 136–449UCSCIntermediate filament protein

Gene Aliases

HGNC Name

keratin 4

HGNC Previous Symbol

CYK4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_002272.4
p.A72V
c.215C>T
Surrounding Variants
1 paper
NM_002272.4
p.R69*
c.205C>T
1 paper
NM_002272.4
p.G67insFs
c.199_200ins8
1 paper
NM_002272.4
p.G79G
c.237C>T
1 paper
NM_002272.4
p.F80_G81insFs
c.240_241insC
1 paper
NM_002272.4
p.F80F
c.240T>C
1 paper
NM_002272.4
p.G81ins2
c.242_243ins6
1 paper
NM_002272.4
p.G81ins4
c.242_243ins12
1 paper
NM_002272.4
p.G81fs
c.241_242fs
1 paper
NM_002272.4
p.G84D
c.251G>A
1 paper
NM_002272.4
p.S60N
c.179G>A
1 paper
NM_002272.4
p.G86_G87ins14
c.256_260ins42
1 paper
NM_002272.4
p.G86_G87insFs
c.258_259ins25
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