Varaico: Literature-Extracted Genetic Variants

Gene:TMEM117

TMEM117

25 papers

Pfam Domains

TMEM117aa 4–416UCSCTMEM117 protein family

Gene Aliases

HGNC Name

transmembrane protein 117

HGNC Alias Symbol

DKFZp434K2435

Papers
RefSeq ID
Protein change
DNA change
1–12 of 23 variants
2 papers
NM_032256.3
p.I121V
c.361A>G
1 paper
NM_032256.3
p.R15G
c.43C>G
1 paper
NM_032256.3
p.F92S
c.275T>C
1 paper
NM_032256.3
p.S107*
c.320C>A
1 paper
NM_032256.3
p.W161*
c.482G>A
1 paper
NM_032256.3
p.W161*
c.483G>A
1 paper
NM_032256.3
p.L227V
c.679C>G
1 paper
NM_032256.3
p.G230G
c.690A>T
1 paper
NM_032256.3
p.D268Y
c.802G>T
1 paper
NM_032256.3
p.I296T
c.887T>C
1 paper
NM_032256.3
p.G335S
c.1003G>A
1 paper
NM_032256.3
p.D351Y
c.1051G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."