Varaico: Literature-Extracted Genetic Variants

Gene:KRT6A

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
1–12 of 194 variants
30 papers
NM_005554.4
p.N171K
c.513C>G
30 papers
NM_005554.4
p.N171K
c.513C>A
26 papers
NM_005554.4
p.N172del1
c.514_515delGTT
12 papers
NM_005554.4
p.F174S
c.521T>C
12 papers
NM_005554.4
p.I462N
c.1385T>A
12 papers
NM_005554.4
p.E472K
c.1414G>A
9 papers
NM_005554.4
p.L170F
c.508C>T
9 papers
NM_005554.4
p.Y465H
c.1393T>C
8 papers
NM_005554.4
p.N171S
c.512A>G
8 papers
NM_005554.4
p.L469R
c.1406T>G
8 papers
NM_005554.4
p.L469P
c.1406T>C
7 papers
NM_005554.4
p.N171D
c.511A>G
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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."