Varaico: Literature-Extracted Genetic Variants

Gene:TMC6
Variant:p.G187_W189del0

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
1 paper
NM_001127198.5
p.G187_W189del0
c.559_567del9
Surrounding Variants
4 papers
NM_001127198.5
p.G191D
c.572G>A
1 paper
NM_001127198.5
p.G191delFs
c.571delC
1 paper
NM_001127198.5
p.G187R
c.559G>A
1 paper
NM_001127198.5
p.G187_S195delFs
c.561_583del23
1 paper
NM_001127198.5
p.R183_T184insFs
c.549_550insTT
1 paper
NM_001127198.5
p.K181fs
c.541_542fs
1 paper
NM_001127198.5
p.S200F
c.599C>T
1 paper
NM_001127198.5
p.R179Q
c.536G>A
1 paper
NM_001127198.5
p.L211L
c.633G>A
1 paper
NM_001127198.5
p.R179delFs
c.535_536delCG
1 paper
NM_001127198.5
p.R179Q
c.536G>A
1 paper
NM_001127198.5
p.A223T
c.667G>A
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