Varaico: Literature-Extracted Genetic Variants

Gene:KRT7
Variant:p.R64C

KRT7

245 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 49–87UCSCKeratin type II head
Filamentaa 90–402UCSCIntermediate filament protein

Gene Aliases

HGNC Name

keratin 7

HGNC Alias Symbols

K7; CK7; CK-7; K2C7; SCL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005556.4
p.R64C
c.190C>T
Surrounding Variants
2 papers
NM_005556.4
p.I63V
c.187A>G
3 papers
NM_005556.4
p.G62C
c.184G>T
1 paper
NM_005556.4
p.G60A
c.179G>C
1 paper
NM_005556.4
p.V59_R64delFs
c.175_190del16
1 paper
NM_005556.4
p.G57C
c.169G>T
1 paper
NM_005556.4
p.S71delFs
c.213delC
1 paper
NM_005556.4
p.A74P
c.220G>C
1 paper
NM_005556.4
p.P75R
c.224C>G
1 paper
NM_005556.4
p.L76P
c.227T>C
1 paper
NM_005556.4
p.D79N
c.235G>A
1 paper
NM_005556.4
p.D79G
c.236A>G
3 papers
NM_005556.4
p.S45L
c.134C>T
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