Varaico: Literature-Extracted Genetic Variants

Gene:TMC6
Variant:p.Y370*

TMC6

127 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 540–646UCSCTMC domain

Gene Aliases

HGNC Name

transmembrane channel like 6

HGNC Previous Symbols

EVER1; TNRC6C-AS1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001127198.5
p.Y370*
c.1110C>G
Surrounding Variants
3 papers
NM_001127198.5
p.Y370*
c.1110C>A
1 paper
NM_001127198.5
p.V372L
c.1114G>C
1 paper
NM_001127198.5
p.S365F
c.1094C>T
1 paper
NM_001127198.5
p.A380T
c.1138G>A
1 paper
NM_001127198.5
p.Q393*
c.1177C>T
1 paper
NM_001127198.5
p.A413P
c.1237G>C
1 paper
NM_001127198.5
p.E414K
c.1240G>A
1 paper
NM_001127198.5
p.C425fs
c.1273_1274fs
1 paper
NM_001127198.5
p.C425delFs
c.1273_1274delCA
1 paper
NM_001127198.5
p.A432A
c.1296T>G
1 paper
NM_001127198.5
p.L440L
c.1318C>T
1 paper
NM_001127198.5
p.V450M
c.1348G>A
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