Varaico: Literature-Extracted Genetic Variants

Gene:TMC6
Variant:p.A297_G298Splc

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.A297_G298Splc
c.892-2A>T
Surrounding Variants
1 paper
NM_001127198.5
p.M305I
c.915G>C
2 papers
NM_001127198.5
p.Y306insFs
c.916_917ins5
1 paper
NM_001127198.5
p.Y306fs
c.916_917fs
1 paper
NM_001127198.5
p.V304_Y306insFs
c.912_916dup5
1 paper
NM_001127198.5
p.Y306fs
c.916_917fs
1 paper
NM_001127198.5
p.P318L
c.953C>T
1 paper
NM_001127198.5
p.L323fs
c.967_968fs
4 papers
NM_001127198.5
p.L323delFs
c.968delA
1 paper
NM_001127198.5
p.N338K
c.1014C>G
1 paper
NM_001127198.5
p.N338K
c.1014C>A
2 papers
NM_001127198.5
p.L341P
c.1022T>C
1 paper
NM_001127198.5
p.V349M
c.1045G>A
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