Varaico: Literature-Extracted Genetic Variants

Gene:TMEM127
Variant:p.P18L

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
6 papers
NM_017849.4
p.P18L
c.53C>T
Surrounding Variants
1 paper
NM_017849.4
p.P18S
c.52C>T
3 papers
NM_017849.4
p.S17I
c.50G>T
1 paper
NM_017849.4
p.G12W
c.34G>T
2 papers
NM_017849.4
p.K25*
c.73A>T
3 papers
NM_017849.4
p.G11C
c.31G>T
1 paper
NM_017849.4
p.P10delFs
c.30delG
1 paper
NM_017849.4
p.G11fs
c.31_32fs
1 paper
NM_017849.4
p.Q26fs
c.76_77fs
2 papers
NM_017849.4
p.Q26*
c.76C>T
1 paper
NM_017849.4
p.L9_P10delFs
c.26_29del4
1 paper
NM_017849.4
p.P27S
c.79C>T
1 paper
NM_017849.4
p.L9fs
c.25_26fs
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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."