Varaico: Literature-Extracted Genetic Variants

Gene:TM6SF2
Variant:p.P33L

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.P33L
c.98C>T
Surrounding Variants
1 paper
NM_001001524.3
p.P33T
c.97C>A
1 paper
NM_001001524.3
p.L34fs
c.100_101fs
1 paper
NM_001001524.3
p.W35R
c.103T>C
1 paper
NM_001001524.3
p.W35R
c.103T>A
1 paper
NM_001001524.3
p.W35*
c.104G>A
1 paper
NM_001001524.3
p.W35*
c.105G>A
1 paper
NM_001001524.3
p.A37T
c.109G>A
1 paper
NM_001001524.3
p.S40N
c.119G>A
1 paper
NM_001001524.3
p.A41T
c.121G>A
1 paper
NM_001001524.3
p.L46P
c.137T>C
2 papers
NM_001001524.3
p.V49L
c.145G>T
2 papers
NM_001001524.3
p.V49L
c.145G>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."