Varaico: Literature-Extracted Genetic Variants

Gene:TMC8
Variant:p.M1T

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.M1T
c.2T>C
Surrounding Variants
1 paper
NM_152468.5
p.M1insFs
c.1_2insG
1 paper
NM_152468.5
p.M1V
c.1A>G
1 paper
NM_152468.5
p.M1insFs
c.1dupA
1 paper
NM_152468.5
p.L2P
c.5T>C
1 paper
NM_152468.5
p.V7E
c.20T>A
1 paper
NM_152468.5
p.G14R
c.40G>A
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.P16S
c.46C>T
1 paper
NM_152468.5
p.E19K
c.55G>A
1 paper
NM_152468.5
p.M26T
c.77T>C
2 papers
NM_152468.5
p.D45Y
c.133G>T
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