Varaico: Literature-Extracted Genetic Variants

Gene:TMC6
Variant:p.Y248*

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
8 papers
NM_001127198.5
p.Y248*
c.744C>G
Surrounding Variants
2 papers
NM_001127198.5
p.Y248Y
c.744C>T
10 papers
NM_001127198.5
p.Y248*
c.744C>A
1 paper
NM_001127198.5
p.S247Y
c.740C>A
1 paper
NM_001127198.5
p.S247P
c.739T>C
1 paper
NM_001127198.5
p.L252delFs
c.755delA
1 paper
NM_001127198.5
p.K253N
c.759G>T
1 paper
NM_001127198.5
p.K253N
c.759G>C
2 papers
NM_001127198.5
p.L256delFs
c.767delA
1 paper
NM_001127198.5
p.L256delFs
c.767_768delCA
1 paper
NM_001127198.5
p.Q240delFs
c.718delG
1 paper
NM_001127198.5
p.Q240fs
c.718_719fs
1 paper
NM_001127198.5
p.R236S
c.706C>A
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