Varaico: Literature-Extracted Genetic Variants

Gene:TMC6
Variant:p.F609L

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.F609L
c.1827C>A
Surrounding Variants
1 paper
NM_001127198.5
p.F609L
c.1827C>G
1 paper
NM_001127198.5
p.F609L
c.1825T>C
1 paper
NM_001127198.5
p.L612_L613insFs
c.1836_1837insTC
1 paper
NM_001127198.5
p.A615T
c.1843G>A
1 paper
NM_001127198.5
p.Q617*
c.1849C>T
1 paper
NM_001127198.5
p.V624I
c.1870G>A
1 paper
NM_001127198.5
p.A590V
c.1769C>T
1 paper
NM_001127198.5
p.R583Q
c.1748G>A
8 papers
NM_001127198.5
p.E576*
c.1726G>T
1 paper
NM_001127198.5
p.R572Splc
c.1716-1G>A
1 paper
NM_001127198.5
p.A634D
c.1901C>A
1 paper
NM_001127198.5
p.L656L
c.1968C>T
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