Varaico: Literature-Extracted Genetic Variants

Gene:KRT6A
Variant:p.E473insFs

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
2 papers
NM_005554.4
p.E473insFs
c.1417dupG
Surrounding Variants
1 paper
NM_005554.4
p.G471_E473del0
c.1412_1417del6
2 papers
NM_005554.4
p.E473K
c.1417G>A
1 paper
NM_005554.4
p.E472D
c.1416G>T
2 papers
NM_005554.4
p.E472D
c.1416G>C
12 papers
NM_005554.4
p.E472K
c.1414G>A
2 papers
NM_005554.4
p.L469_E470delFs
c.1406_1410del5
3 papers
NM_005554.4
p.L469_E470Fs
c.1406_1410delinsGGTAFs
8 papers
NM_005554.4
p.L469R
c.1406T>G
8 papers
NM_005554.4
p.L469P
c.1406T>C
1 paper
NM_005554.4
p.L468R
c.1403T>G
7 papers
NM_005554.4
p.L468P
c.1403T>C
3 papers
NM_005554.4
p.L468Q
c.1403T>A
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