Varaico: Literature-Extracted Genetic Variants

Gene:KRT6A
Variant:p.L112L

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.L112L
c.336G>C
Surrounding Variants
1 paper
NM_005554.4
p.L112P
c.335T>C
1 paper
NM_005554.4
p.G111A
c.332G>C
1 paper
NM_005554.4
p.G111D
c.332G>A
1 paper
NM_005554.4
p.G114G
c.342T>C
1 paper
NM_005554.4
p.A116P
c.346G>C
1 paper
NM_005554.4
p.G117R
c.349G>C
1 paper
NM_005554.4
p.I108_G117del10
c.322_350del30
1 paper
NM_005554.4
p.G103D
c.308G>A
1 paper
NM_005554.4
p.G123R
c.367G>A
1 paper
NM_005554.4
p.P125P
c.375T>C
2 papers
NM_005554.4
p.G97R
c.289G>C
2 papers
NM_005554.4
p.G97R
c.289G>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."