Varaico: Literature-Extracted Genetic Variants

Gene:TMC6
Variant:p.W125R

TMC6

127 papers

RefSeq Summary

Epidermodysplasia verruciformis (EV) is an autosomal recessive dermatosis characterized by abnormal susceptibility to human papillomaviruses (HPVs) and a high rate of progression to squamous cell carc...

Pfam Domains

TMCaa 540–646UCSCTMC domain

Gene Aliases

HGNC Name

transmembrane channel like 6

HGNC Previous Symbols

EVER1; TNRC6C-AS1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
13 papers
NM_001127198.5
p.W125R
c.373T>C
Surrounding Variants
12 papers
NM_001127198.5
p.W125R
c.373T>A
1 paper
NM_001127198.5
p.T105T
c.315G>A
1 paper
NM_001127198.5
p.T105M
c.314C>T
8 papers
NM_001127198.5
p.R94*
c.280C>T
1 paper
NM_001127198.5
p.L82L
c.246G>A
1 paper
NM_001127198.5
p.L79delFs
c.235delG
1 paper
NM_001127198.5
p.T76M
c.227C>T
1 paper
NM_001127198.5
p.S75C
c.223A>T
5 papers
NM_001127198.5
p.Q74*
c.220C>T
9 papers
NM_001127198.5
p.L153F
c.457C>T
1 paper
NM_001127198.5
p.L153V
c.457C>G
1 paper
NM_001127198.5
p.G72S
c.214G>A
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