Varaico: Literature-Extracted Genetic Variants

Gene:TMC5
Variant:p.R276C

TMC5

55 papers

Pfam Domains

TMCaa 724–830UCSCTMC domain

Gene Aliases

HGNC Name

transmembrane channel like 5

HGNC Alias Symbol

FLJ13593

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001261841.2
p.R276C
c.826C>T
Surrounding Variants
1 paper
NM_001261841.2
p.R276H
c.827G>A
1 paper
NM_001261841.2
p.S285I
c.854G>T
1 paper
NM_001261841.2
p.E256*
c.766G>T
1 paper
NM_001261841.2
p.G203*
c.607G>T
1 paper
NM_001261841.2
p.A199T
c.595G>A
1 paper
NM_001261841.2
p.P197S
c.589C>T
1 paper
NM_001261841.2
p.H181Y
c.541C>T
1 paper
NM_001261841.2
p.N180S
c.539A>G
1 paper
NM_001261841.2
p.A166P
c.496G>C
1 paper
NM_001261841.2
p.P161L
c.482C>T
1 paper
NM_001261841.2
p.G148V
c.443G>T
1 paper
NM_001261841.2
p.Q132Q
c.396A>G
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