Varaico: Literature-Extracted Genetic Variants

Gene:TMC8
Variant:p.W250*

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.W250*
c.749G>A
Surrounding Variants
1 paper
NM_152468.5
p.W250*
c.750G>A
1 paper
NM_152468.5
p.F252delFs
c.755delT
1 paper
NM_152468.5
p.S248S
c.744C>A
1 paper
NM_152468.5
p.S248S
c.744C>T
1 paper
NM_152468.5
p.F252fs
c.754_755fs
1 paper
NM_152468.5
p.F252fs
c.754_755fs
1 paper
NM_152468.5
p.V256delFs
c.767_768delTG
2 papers
NM_152468.5
p.V256delFs
c.767delT
1 paper
NM_152468.5
p.Q236*
c.706C>T
1 paper
NM_152468.5
p.K272E
c.814A>G
1 paper
NM_152468.5
p.R223Splc
c.668+13T>C
1 paper
NM_152468.5
p.R223Splc
c.668+5G>A
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