Varaico: Literature-Extracted Genetic Variants

Gene:TMC6
Variant:p.N721T

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.N721T
c.2162A>C
Surrounding Variants
1 paper
NM_001127198.5
p.M719V
c.2155A>G
1 paper
NM_001127198.5
p.G705S
c.2113G>A
1 paper
NM_001127198.5
p.S678*
c.2033C>A
1 paper
NM_001127198.5
p.Q674L
c.2021A>T
1 paper
NM_001127198.5
p.Q674Splc
c.2022-14G>A
1 paper
NM_001127198.5
p.R747H
c.2240G>A
1 paper
NM_001127198.5
p.L752P
c.2255T>C
1 paper
NM_001127198.5
p.N759K
c.2277T>G
1 paper
NM_001127198.5
p.N759K
c.2277T>A
1 paper
NM_001127198.5
p.Q674Splc
c.2021+4A>G
1 paper
NM_001127198.5
p.Q674L
c.2021A>T
1 paper
NM_001127198.5
p.A664A
c.1992C>G
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