Varaico: Literature-Extracted Genetic Variants

Gene:TMEM127
Variant:p.Y74C

TMEM127

217 papers

RefSeq Summary

This gene encodes a transmembrane protein with four predicted transmembrane domains. The protein is associated with a subpopulation of vesicular organelles corresponding to early endosomal structures,...

Pfam Domains

TMEM127aa 1–112UCSCTransmembrane protein 127

Gene Aliases

HGNC Name

transmembrane protein 127

HGNC Alias Symbols

FLJ20507; FLJ22257

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_017849.4
p.Y74C
c.221A>G
Surrounding Variants
3 papers
NM_017849.4
p.Y74S
c.221A>C
1 paper
NM_017849.4
p.Y74*
c.222T>A
1 paper
NM_017849.4
p.Y74delins
c.221_222delinsCC
3 papers
NM_017849.4
p.G73R
c.217G>C
1 paper
NM_017849.4
p.L72*
c.215T>A
1 paper
NM_017849.4
p.H76ins1
c.227_228insTCT
1 paper
NM_017849.4
p.H76_P77ins0
c.227_229dupACC
1 paper
NM_017849.4
p.H76_P77del1
c.227_229delGGT
1 paper
NM_017849.4
p.D78insFs
c.232_233insAA
3 papers
NM_017849.4
p.D78N
c.232G>A
1 paper
NM_017849.4
p.D78fs
c.232_233fs
1 paper
NM_017849.4
p.D70G
c.209A>G
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