Varaico: Literature-Extracted Genetic Variants

Gene:TMC8
Variant:p.W63*

TMC8

103 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 418–528UCSCTMC domain

Gene Aliases

HGNC Name

transmembrane channel like 8

HGNC Previous Symbol

EVER2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_152468.5
p.W63*
c.188G>A
Surrounding Variants
2 papers
NM_152468.5
p.W63*
c.189G>A
1 paper
NM_152468.5
p.L52L
c.156G>A
1 paper
NM_152468.5
p.R78Q
c.233G>A
1 paper
NM_152468.5
p.A81G
c.242C>G
1 paper
NM_152468.5
p.G100Splc
c.298+1G>A
2 papers
NM_152468.5
p.D45Y
c.133G>T
1 paper
NM_152468.5
p.M26T
c.77T>C
1 paper
NM_152468.5
p.E19K
c.55G>A
1 paper
NM_152468.5
p.P16S
c.46C>T
1 paper
NM_152468.5
p.V15L
c.43G>C
1 paper
NM_152468.5
p.V15L
c.43G>T
1 paper
NM_152468.5
p.G14R
c.40G>A
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