Varaico: Literature-Extracted Genetic Variants

Gene:TM9SF2
Variant:p.L575F

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.L575F
c.1723C>T
Surrounding Variants
1 paper
NM_004800.3
p.T573N
c.1718C>A
1 paper
NM_004800.3
p.F562V
c.1684T>G
1 paper
NM_004800.3
p.F541V
c.1621T>G
1 paper
NM_004800.3
p.I524T
c.1571T>C
1 paper
NM_004800.3
p.I524_I525delFs
c.1572_1573delTA
1 paper
NM_004800.3
p.Y517C
c.1550A>G
1 paper
NM_004800.3
p.S515L
c.1544C>T
1 paper
NM_004800.3
p.P512A
c.1534C>G
1 paper
NM_004800.3
p.Q506H
c.1518G>C
1 paper
NM_004800.3
p.Q506H
c.1518G>T
1 paper
NM_004800.3
p.A489S
c.1465G>T
1 paper
NM_004800.3
p.I480L
c.1438A>C
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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."