Varaico: Literature-Extracted Genetic Variants

Gene:TMC8
Variant:p.V173G

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.V173G
c.518T>G
Surrounding Variants
1 paper
NM_152468.5
p.R177_A178Splc
c.531+2T>G
1 paper
NM_152468.5
p.V163I
c.487G>A
1 paper
NM_152468.5
p.P160fs
c.478_479fs
1 paper
NM_152468.5
p.T150fs
c.448_449fs
1 paper
NM_152468.5
p.P141fs
c.421_422fs
1 paper
NM_152468.5
p.Y109fs
c.325_326fs
1 paper
NM_152468.5
p.Y109_L113delFs
c.326_338del13
1 paper
NM_152468.5
p.Y183_L184insFs
c.549_550insTT
2 papers
NM_152468.5
p.G187S
c.559G>A
2 papers
NM_152468.5
p.G187_S195delFs
c.561_583del23
1 paper
NM_152468.5
p.A188fs
c.562_563fs
4 papers
NM_152468.5
p.R190*
c.568C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."