Varaico: Literature-Extracted Genetic Variants

Gene:TMEM127
Variant:p.G117_H120del4

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
8 papers
NM_017849.4
p.G117_H120del4
c.349_359del12
Surrounding Variants
1 paper
NM_017849.4
p.H120R
c.359A>G
2 papers
NM_017849.4
p.F116_K119del4
c.346_356del12
3 papers
NM_017849.4
p.P118L
c.353C>T
1 paper
NM_017849.4
p.P118_K119insGCT
c.352_356ins9
1 paper
NM_017849.4
p.P118_K119ins6
c.352_356ins18
1 paper
NM_017849.4
p.V115_F116del2
c.343_347del6
3 papers
NM_017849.4
p.G117R
c.349G>C
2 papers
NM_017849.4
p.T126I
c.377C>T
1 paper
NM_017849.4
p.R127C
c.379C>T
1 paper
NM_017849.4
p.R127H
c.380G>A
1 paper
NM_017849.4
p.R128H
c.383G>A
1 paper
NM_017849.4
p.Y129insFs
c.386dupA
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