Varaico: Literature-Extracted Genetic Variants

Gene:KRT36
Variant:p.E300A

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.E300A
c.899A>C
Surrounding Variants
1 paper
NM_003771.5
p.Q301H
c.903G>T
1 paper
NM_003771.5
p.Q301H
c.903G>C
2 papers
NM_003771.5
p.L302L
c.906G>T
1 paper
NM_003771.5
p.C305F
c.914G>T
5 papers
NM_003771.5
p.Q294*
c.880C>T
4 papers
NM_003771.5
p.E311*
c.931G>T
3 papers
NM_003771.5
p.E311V
c.932A>T
1 paper
NM_003771.5
p.Q287_T288Splc
c.862-1G>A
1 paper
NM_003771.5
p.R314C
c.940C>T
3 papers
NM_003771.5
p.T315M
c.944C>T
1 paper
NM_003771.5
p.A318A
c.954G>A
1 paper
NM_003771.5
p.Q287L
c.860A>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."