Varaico: Literature-Extracted Genetic Variants

Gene:TMEM127
Variant:p.A150delins

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
1 paper
NM_017849.4
p.A150delins
c.449delinsA
Surrounding Variants
2 papers
NM_017849.4
p.A150V
c.449C>T
1 paper
NM_017849.4
p.W149_A150delins
c.446_449delinsA
2 papers
NM_017849.4
p.W149*
c.447G>A
2 papers
NM_017849.4
p.W149*
c.446G>A
1 paper
NM_017849.4
p.Y148_W149del1
c.443_445delAAT
1 paper
NM_017849.4
p.W149_A150insA
c.445_449ins3
6 papers
NM_017849.4
p.S147del1
c.439_440delAGA
1 paper
NM_017849.4
p.L153H
c.458T>A
1 paper
NM_017849.4
p.S147C
c.440C>G
1 paper
NM_017849.4
p.I154F
c.460A>T
2 papers
NM_017849.4
p.I154M
c.462C>G
5 papers
NM_017849.4
p.L155*
c.464T>A
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