Varaico: Literature-Extracted Genetic Variants

Gene:TMEM127
Variant:p.F83fs

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.F83fs
c.247_248fs
Surrounding Variants
1 paper
NM_017849.4
p.F83delFs
c.248delA
1 paper
NM_017849.4
p.F83fs
c.247_248fs
1 paper
NM_017849.4
p.M85V
c.253A>G
1 paper
NM_017849.4
p.D82G
c.245A>G
4 papers
NM_017849.4
p.D82Splc
c.245-1G>T
1 paper
NM_017849.4
p.D82Splc
c.245-1G>A
1 paper
NM_017849.4
p.D82Splc
c.245-2A>G
1 paper
NM_017849.4
p.P87fs
c.259_260fs
1 paper
NM_017849.4
p.D82Splc
c.245-10C>G
2 papers
NM_017849.4
p.D82_Q88delFs
c.245_264del20
2 papers
NM_017849.4
p.T89fs
c.265_266fs
7 papers
NM_017849.4
p.V90M
c.268G>A
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