Varaico: Literature-Extracted Genetic Variants

Gene:KRT71
Variant:p.Q129*

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.Q129*
c.385C>T
Surrounding Variants
1 paper
NM_033448.3
p.E130K
c.388G>A
1 paper
NM_033448.3
p.R131Q
c.392G>A
1 paper
NM_033448.3
p.I134F
c.400A>T
4 papers
NM_033448.3
p.E122K
c.364G>A
3 papers
NM_033448.3
p.F141C
c.422T>G
1 paper
NM_033448.3
p.L112_P114del3
c.334_341del9
1 paper
NM_033448.3
p.A142delFs
c.424_425delGC
1 paper
NM_033448.3
p.V107A
c.320T>C
1 paper
NM_033448.3
p.V107I
c.319G>A
2 papers
NM_033448.3
p.G90R
c.268G>C
2 papers
NM_033448.3
p.G90R
c.268G>A
1 paper
NM_033448.3
p.A76G
c.227C>G
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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."