Varaico: Literature-Extracted Genetic Variants

Gene:KRT7
Variant:p.Q94L

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.Q94L
c.281A>T
Surrounding Variants
1 paper
NM_005556.4
p.Q94E
c.280C>G
2 papers
NM_005556.4
p.I95N
c.284T>A
1 paper
NM_005556.4
p.K108N
c.324G>C
1 paper
NM_005556.4
p.K108N
c.324G>T
1 paper
NM_005556.4
p.D79G
c.236A>G
1 paper
NM_005556.4
p.D79N
c.235G>A
1 paper
NM_005556.4
p.L76P
c.227T>C
1 paper
NM_005556.4
p.P75R
c.224C>G
1 paper
NM_005556.4
p.A74P
c.220G>C
1 paper
NM_005556.4
p.K108_V109Splc
c.324+23T>G
1 paper
NM_005556.4
p.S71delFs
c.213delC
1 paper
NM_005556.4
p.R64C
c.190C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."