Varaico: Literature-Extracted Genetic Variants

Gene:KRT6A
Variant:p.G57S

KRT6A

225 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 17–159UCSCKeratin type II head
Filamentaa 162–475UCSCIntermediate filament protein

Gene Aliases

HGNC Name

keratin 6A

HGNC Previous Symbol

KRT6D

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005554.4
p.G57S
c.169G>A
Surrounding Variants
1 paper
NM_005554.4
p.G55C
c.163G>T
1 paper
NM_005554.4
p.S60S
c.180T>C
2 papers
NM_005554.4
p.S58_L61delFs
c.172_181del10
1 paper
NM_005554.4
p.A50V
c.149C>T
1 paper
NM_005554.4
p.L64V
c.190C>G
1 paper
NM_005554.4
p.G43A
c.128G>C
1 paper
NM_005554.4
p.V36_S39delFs
c.108_117del10
1 paper
NM_005554.4
p.G75_S76delFs
c.224_227del4
1 paper
NM_005554.4
p.V36I
c.106G>A
1 paper
NM_005554.4
p.A78V
c.233C>T
1 paper
NM_005554.4
p.G81D
c.242G>A
1 paper
NM_005554.4
p.V28G
c.83T>G
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