Varaico: Literature-Extracted Genetic Variants

Gene:TMEM127
Variant:p.A222V

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
10 papers
NM_017849.4
p.A222V
c.665C>T
Surrounding Variants
1 paper
NM_017849.4
p.E218E
c.654G>A
1 paper
NM_017849.4
p.E216*
c.646G>T
1 paper
NM_017849.4
p.I227_Q229del3
c.679_686del9
3 papers
NM_017849.4
p.M214fs
c.640_641fs
3 papers
NM_017849.4
p.E209_M214insFs
c.627_640dup14
1 paper
NM_017849.4
p.M214delFs
c.640delT
1 paper
NM_017849.4
p.Q231*
c.691C>T
1 paper
NM_017849.4
p.E213*
c.637G>T
1 paper
NM_017849.4
p.P232_P233insAA
c.694_698ins6
1 paper
NM_017849.4
p.S212*
c.635C>G
1 paper
NM_017849.4
p.P232Q
c.695C>A
1 paper
NM_017849.4
p.S212*
c.635C>A
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