Varaico: Literature-Extracted Genetic Variants

Gene:TMC6
Variant:p.R551W

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
2 papers
NM_001127198.5
p.R551W
c.1651C>T
Surrounding Variants
1 paper
NM_001127198.5
p.L549_Y550insTT
c.1645_1649ins6
1 paper
NM_001127198.5
p.G546fs
c.1636_1637fs
1 paper
NM_001127198.5
p.G546insFs
c.1637_1638insAC
1 paper
NM_001127198.5
p.G546insFs
c.1637_1638ins13
1 paper
NM_001127198.5
p.D543N
c.1627G>A
1 paper
NM_001127198.5
p.C540R
c.1618T>C
1 paper
NM_001127198.5
p.T564M
c.1691C>T
1 paper
NM_001127198.5
p.V535_L536del2
c.1603_1607del6
1 paper
NM_001127198.5
p.L559_G567del9
c.1675_1700del27
1 paper
NM_001127198.5
p.R531C
c.1591C>T
1 paper
NM_001127198.5
p.R512Splc
c.1536-4G>A
1 paper
NM_001127198.5
p.R572Splc
c.1715+56C>G
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