Varaico: Literature-Extracted Genetic Variants

Gene:TM6SF2
Variant:p.E167*

TM6SF2

398 papers

Pfam Domains

TM_Tm6sf2aa 16–200UCSCTransmembrane 6 superfamily member 2-like, transmembrane domain
EBPaa 246–354UCSCEXPERA (EXPanded EBP superfamily)

Gene Aliases

HGNC Name

transmembrane 6 superfamily member 2

HGNC Alias Symbol

Lpr4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001001524.3
p.E167*
c.499G>T
Surrounding Variants
339 papers
NM_001001524.3
p.E167K
c.499G>A
1 paper
NM_001001524.3
p.S166Y
c.497C>A
1 paper
NM_001001524.3
p.S166P
c.496T>C
1 paper
NM_001001524.3
p.S165I
c.494G>T
1 paper
NM_001001524.3
p.S165G
c.493A>G
1 paper
NM_001001524.3
p.G162V
c.485G>T
1 paper
NM_001001524.3
p.P177H
c.530C>A
1 paper
NM_001001524.3
p.Y178fs
c.532_533fs
1 paper
NM_001001524.3
p.P182T
c.544C>A
1 paper
NM_001001524.3
p.C183W
c.549C>G
1 paper
NM_001001524.3
p.K188E
c.562A>G
1 paper
NM_001001524.3
p.S191C
c.571A>T
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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."