Varaico: Literature-Extracted Genetic Variants

Gene:TMC8
Variant:p.A188fs

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
1 paper
NM_152468.5
p.A188fs
c.562_563fs
Surrounding Variants
2 papers
NM_152468.5
p.G187_S195delFs
c.561_583del23
2 papers
NM_152468.5
p.G187S
c.559G>A
4 papers
NM_152468.5
p.R190*
c.568C>T
1 paper
NM_152468.5
p.V191delFs
c.571delG
1 paper
NM_152468.5
p.V191fs
c.571_572fs
1 paper
NM_152468.5
p.Y183_L184insFs
c.549_550insTT
1 paper
NM_152468.5
p.P193L
c.578C>T
1 paper
NM_152468.5
p.R202C
c.604C>T
1 paper
NM_152468.5
p.A204T
c.610G>A
1 paper
NM_152468.5
p.L206F
c.616C>T
1 paper
NM_152468.5
p.S208G
c.622A>G
1 paper
NM_152468.5
p.C212*
c.636C>A
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