Varaico: Literature-Extracted Genetic Variants

Gene:KRT74
Variant:p.L125P

KRT74

151 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 protein belongs to a family...

Pfam Domains

Keratin_2_headaa 2–136UCSCKeratin type II head
Filamentaa 139–452UCSCIntermediate filament protein

Gene Aliases

HGNC Name

keratin 74

HGNC Alias Symbols

K6IRS4; KRT5C; KRT6IRS4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_175053.4
p.L125P
c.374T>C
Surrounding Variants
1 paper
NM_175053.4
p.L129L
c.385C>T
1 paper
NM_175053.4
p.L121F
c.361C>T
1 paper
NM_175053.4
p.D130V
c.389A>T
1 paper
NM_175053.4
p.I112M
c.336C>G
1 paper
NM_175053.4
p.I112N
c.335T>A
1 paper
NM_175053.4
p.E140K
c.418G>A
1 paper
NM_175053.4
p.R141W
c.421C>T
1 paper
NM_175053.4
p.E142K
c.424G>A
1 paper
NM_175053.4
p.C107*
c.321C>A
1 paper
NM_175053.4
p.C103Y
c.308G>A
7 papers
NM_175053.4
p.N148K
c.444C>G
7 papers
NM_175053.4
p.N148K
c.444C>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."