Varaico: Literature-Extracted Genetic Variants

Gene:KRT36
Variant:p.E400A

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.E400A
c.1199A>C
Surrounding Variants
1 paper
NM_003771.5
p.R394C
c.1180C>T
1 paper
NM_003771.5
p.L386fs
c.1156_1157fs
1 paper
NM_003771.5
p.L386delFs
c.1156delG
1 paper
NM_003771.5
p.V378L
c.1132G>T
1 paper
NM_003771.5
p.V378L
c.1132G>C
1 paper
NM_003771.5
p.Q377*
c.1129C>T
1 paper
NM_003771.5
p.D368N
c.1102G>A
2 papers
NM_003771.5
p.R366C
c.1096C>T
1 paper
NM_003771.5
p.N357T
c.1070A>C
1 paper
NM_003771.5
p.E339K
c.1015G>A
1 paper
NM_003771.5
p.P406P
c.1218C>T
2 papers
NM_003771.5
p.A412V
c.1235C>T
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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."