Varaico: Literature-Extracted Genetic Variants

Gene:TM9SF2
Variant:p.K57M

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.K57M
c.170A>T
Surrounding Variants
1 paper
NM_004800.3
p.K52_S53del1
c.155_157delAGA
1 paper
NM_004800.3
p.E50K
c.148G>A
2 papers
NM_004800.3
p.K52insFs
c.155dupA
1 paper
NM_004800.3
p.K52delFs
c.155delA
1 paper
NM_004800.3
p.F46L
c.138C>A
1 paper
NM_004800.3
p.P30R
c.89C>G
1 paper
NM_004800.3
p.L23Q
c.68T>A
1 paper
NM_004800.3
p.R15W
c.43C>T
1 paper
NM_004800.3
p.P11insFs
c.32dupC
1 paper
NM_004800.3
p.P6Q
c.17C>A
1 paper
NM_004800.3
p.M1I
c.3G>A
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