Varaico: Literature-Extracted Genetic Variants

Gene:KRT71
Variant:p.A13delFs

KRT71

135 papers

RefSeq Summary

Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This gene encodes a protein that...

Pfam Domains

Keratin_2_headaa 57–126UCSCKeratin type II head
Filamentaa 129–442UCSCIntermediate filament protein

Gene Aliases

HGNC Name

keratin 71

HGNC Alias Symbols

KRT6IRS; KRT6IRS1; K6IRS1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_033448.3
p.A13delFs
c.38delG
Surrounding Variants
1 paper
NM_033448.3
p.K14K
c.42G>A
1 paper
NM_033448.3
p.A13D
c.38C>A
2 papers
NM_033448.3
p.A12T
c.34G>A
1 paper
NM_033448.3
p.F17Y
c.50T>A
1 paper
NM_033448.3
p.G10E
c.29G>A
1 paper
NM_033448.3
p.G10R
c.28G>C
1 paper
NM_033448.3
p.G10R
c.28G>A
1 paper
NM_033448.3
p.S21T
c.61T>A
2 papers
NM_033448.3
p.F5V
c.13T>G
1 paper
NM_033448.3
p.M1Fs
c.2delinsCAGFs
1 paper
NM_033448.3
p.G27G
c.81C>T
1 paper
NM_033448.3
p.S28T
c.83G>C
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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."