Varaico: Literature-Extracted Genetic Variants

Gene:KRT6A
Variant:p.Y465H

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
9 papers
NM_005554.4
p.Y465H
c.1393T>C
Surrounding Variants
1 paper
NM_005554.4
p.Y465D
c.1393T>G
1 paper
NM_005554.4
p.Y465C
c.1394A>G
1 paper
NM_005554.4
p.Y465S
c.1394A>C
5 papers
NM_005554.4
p.T464P
c.1390A>C
1 paper
NM_005554.4
p.Y465_R466ins0
c.1394_1396dupACC
3 papers
NM_005554.4
p.R466P
c.1397G>C
7 papers
NM_005554.4
p.A463P
c.1387G>C
4 papers
NM_005554.4
p.I462S
c.1385T>G
12 papers
NM_005554.4
p.I462N
c.1385T>A
1 paper
NM_005554.4
p.I462F
c.1384A>T
1 paper
NM_005554.4
p.L468R
c.1403T>G
7 papers
NM_005554.4
p.L468P
c.1403T>C
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