Varaico: Literature-Extracted Genetic Variants

Gene:KRT6A
Variant:p.S176P

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
4 papers
NM_005554.4
p.S176P
c.526T>C
Surrounding Variants
3 papers
NM_005554.4
p.F174C
c.521T>G
12 papers
NM_005554.4
p.F174S
c.521T>C
7 papers
NM_005554.4
p.F174V
c.520T>G
4 papers
NM_005554.4
p.F174I
c.520T>A
1 paper
NM_005554.4
p.F177del1
c.529_531delGAA
4 papers
NM_005554.4
p.I178N
c.533T>A
26 papers
NM_005554.4
p.N172del1
c.514_515delGTT
1 paper
NM_005554.4
p.N172K
c.516C>G
1 paper
NM_005554.4
p.N172K
c.516C>A
30 papers
NM_005554.4
p.N171K
c.513C>G
30 papers
NM_005554.4
p.N171K
c.513C>A
8 papers
NM_005554.4
p.N171S
c.512A>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."