Varaico: Literature-Extracted Genetic Variants

Gene:TMC5
Variant:p.V502L

TMC5

55 papers

Pfam Domains

TMCaa 724–830UCSCTMC domain

Gene Aliases

HGNC Name

transmembrane channel like 5

HGNC Alias Symbol

FLJ13593

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001261841.2
p.V502L
c.1504G>T
Surrounding Variants
1 paper
NM_001261841.2
p.V502L
c.1504G>C
1 paper
NM_001261841.2
p.V502A
c.1505T>C
1 paper
NM_001261841.2
p.D500N
c.1498G>A
2 papers
NM_001261841.2
p.S511F
c.1532C>T
1 paper
NM_001261841.2
p.G488R
c.1462G>A
1 paper
NM_001261841.2
p.G488R
c.1462G>C
2 papers
NM_001261841.2
p.N426S
c.1277A>G
1 paper
NM_001261841.2
p.R415W
c.1243C>T
2 papers
NM_001261841.2
p.I404V
c.1210A>G
1 paper
NM_001261841.2
p.S391insFs
c.1171dupA
1 paper
NM_001261841.2
p.T566A
c.1696A>G
1 paper
NM_001261841.2
p.T575T
c.1725T>A
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