Varaico: Literature-Extracted Genetic Variants

Gene:TMC2
Variant:p.R93W

TMC2

78 papers

RefSeq Summary

This gene encodes a transmembrane protein that is necesssary for mechanotransduction in cochlear hair cells of the inner ear. Mutations in this gene may underlie hereditary disorders of balance and he...

Pfam Domains

TMCaa 574–689UCSCTMC domain

Gene Aliases

HGNC Name

transmembrane channel like 2

HGNC Previous Symbol

C20orf145

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_080751.3
p.R93W
c.277A>T
Surrounding Variants
1 paper
NM_080751.3
p.D102E
c.306C>A
1 paper
NM_080751.3
p.D102E
c.306C>G
1 paper
NM_080751.3
p.S106F
c.317C>T
1 paper
NM_080751.3
p.Q108*
c.322C>T
1 paper
NM_080751.3
p.P66L
c.197C>T
4 papers
NM_080751.3
p.R123K
c.368G>A
1 paper
NM_080751.3
p.R59R
c.177C>T
1 paper
NM_080751.3
p.R54Q
c.161G>A
1 paper
NM_080751.3
p.T46S
c.137C>G
1 paper
NM_080751.3
p.T46S
c.136A>T
4 papers
NM_080751.3
p.R34*
c.100A>T
1 paper
NM_080751.3
p.D29fs
c.85_86fs
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