Varaico: Literature-Extracted Genetic Variants

Gene:TM9SF2
Variant:p.R286S

TM9SF2

83 papers

RefSeq Summary

This gene encodes a member of the transmembrane 9 superfamily. The encoded 76 kDa protein localizes to early endosomes in human cells. The encoded protein possesses a conserved and highly hydrophobic ...

Pfam Domains

EMP70aa 75–620UCSCEndomembrane protein 70

Gene Aliases

HGNC Name

transmembrane 9 superfamily member 2

HGNC Alias Symbols

P76; Lnc-PCIR

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004800.3
p.R286S
c.858A>C
Surrounding Variants
1 paper
NM_004800.3
p.R286S
c.858A>T
2 papers
NM_004800.3
p.A284V
c.851C>T
1 paper
NM_004800.3
p.M294V
c.880A>G
1 paper
NM_004800.3
p.T339M
c.1016C>T
1 paper
NM_004800.3
p.V273F
c.817G>T
1 paper
NM_004800.3
p.V273_E276delFs
c.818_827del10
1 paper
NM_004800.3
p.Y269C
c.806A>G
1 paper
NM_004800.3
p.K266R
c.797A>G
1 paper
NM_004800.3
p.S262A
c.784T>G
1 paper
NM_004800.3
p.G252insFs
c.756dupG
1 paper
NM_004800.3
p.P248S
c.742C>T
1 paper
NM_004800.3
p.P237L
c.710C>T
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