Varaico: Literature-Extracted Genetic Variants

Gene:KRT6A
Variant:p.M1I

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
1 paper
NM_005554.4
p.M1I
c.3G>C
Surrounding Variants
1 paper
NM_005554.4
p.M1I
c.3G>T
1 paper
NM_005554.4
p.M1I
c.3G>A
1 paper
NM_005554.4
p.M1T
c.2T>C
1 paper
NM_005554.4
p.S3T
c.8G>C
1 paper
NM_005554.4
p.T4T
c.12A>T
1 paper
NM_005554.4
p.T6P
c.16A>C
1 paper
NM_005554.4
p.R9delFs
c.25delT
2 papers
NM_005554.4
p.S10N
c.29G>A
1 paper
NM_005554.4
p.S12R
c.36C>A
1 paper
NM_005554.4
p.S13del1
c.37_38delGCT
1 paper
NM_005554.4
p.R15H
c.44G>A
1 paper
NM_005554.4
p.R16R
c.46C>A
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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."