Varaico: Literature-Extracted Genetic Variants

Gene:TMC8
Variant:p.P352insFs

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.P352insFs
c.1054dupC
Surrounding Variants
1 paper
NM_152468.5
p.L353P
c.1058T>C
2 papers
NM_152468.5
p.G342W
c.1024G>T
3 papers
NM_152468.5
p.E362*
c.1084G>T
3 papers
NM_152468.5
p.E369E
c.1107G>A
1 paper
NM_152468.5
p.V370V
c.1110C>G
1 paper
NM_152468.5
p.E330K
c.988G>A
1 paper
NM_152468.5
p.E329_E330Splc
c.988-2A>T
1 paper
NM_152468.5
p.E329_E330Splc
c.988-4G>T
3 papers
NM_152468.5
p.W376Splc
c.1127+1G>C
1 paper
NM_152468.5
p.K328*
c.982A>T
1 paper
NM_152468.5
p.F318Y
c.953T>A
1 paper
NM_152468.5
p.N306N
c.918C>T
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