Varaico: Literature-Extracted Genetic Variants

Gene:KRT36
Variant:p.R116W

KRT36

131 papers

RefSeq Summary

The protein encoded by this gene is a member of the keratin gene family. This type I hair keratin is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I ha...

Pfam Domains

Filamentaa 92–403UCSCIntermediate filament protein

Gene Aliases

HGNC Name

keratin 36

HGNC Previous Symbol

KRTHA6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003771.5
p.R116W
c.346C>T
Surrounding Variants
1 paper
NM_003771.5
p.E120Q
c.358G>C
1 paper
NM_003771.5
p.R112C
c.334C>T
1 paper
NM_003771.5
p.E120A
c.359A>C
1 paper
NM_003771.5
p.L121P
c.362T>C
1 paper
NM_003771.5
p.E109Q
c.325G>C
1 paper
NM_003771.5
p.Q126*
c.376C>T
1 paper
NM_003771.5
p.R103H
c.308G>A
1 paper
NM_003771.5
p.D102V
c.305A>T
1 paper
NM_003771.5
p.D102N
c.304G>A
1 paper
NM_003771.5
p.Q132*
c.394C>T
1 paper
NM_003771.5
p.M97K
c.290T>A
2 papers
NM_003771.5
p.P138A
c.412C>G
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