Varaico: Literature-Extracted Genetic Variants

Gene:KRT36
Variant:p.V34A

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.V34A
c.101T>C
Surrounding Variants
1 paper
NM_003771.5
p.S36S
c.108C>A
1 paper
NM_003771.5
p.S41N
c.122G>A
1 paper
NM_003771.5
p.L42R
c.125T>G
1 paper
NM_003771.5
p.G44C
c.130G>T
1 paper
NM_003771.5
p.G44R
c.130G>C
1 paper
NM_003771.5
p.G44S
c.130G>A
1 paper
NM_003771.5
p.G44A
c.131G>C
1 paper
NM_003771.5
p.G44D
c.131G>A
1 paper
NM_003771.5
p.G24S
c.70G>A
1 paper
NM_003771.5
p.G23D
c.68G>A
1 paper
NM_003771.5
p.G20D
c.59G>A
1 paper
NM_003771.5
p.L18insFs
c.52_53insG
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