Varaico: Literature-Extracted Genetic Variants

Gene:TMEM127
Variant:p.N194N

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.N194N
c.582C>T
Surrounding Variants
1 paper
NM_017849.4
p.T191T
c.573G>A
5 papers
NM_017849.4
p.T191delFs
c.572delG
3 papers
NM_017849.4
p.T191fs
c.571_572fs
3 papers
NM_017849.4
p.A190delFs
c.570delG
2 papers
NM_017849.4
p.A190T
c.568G>A
1 paper
NM_017849.4
p.P200S
c.598C>T
1 paper
NM_017849.4
p.P200T
c.598C>A
1 paper
NM_017849.4
p.P200H
c.599C>A
2 papers
NM_017849.4
p.I188V
c.562A>G
2 papers
NM_017849.4
p.S187*
c.560C>G
2 papers
NM_017849.4
p.S187*
c.560C>A
2 papers
NM_017849.4
p.A181_G185insFs
c.543_555dup13
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."