Varaico: Literature-Extracted Genetic Variants

Gene:TM6SF2
Variant:p.H56R

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.H56R
c.167A>G
Surrounding Variants
1 paper
NM_001001524.3
p.E58K
c.172G>A
1 paper
NM_001001524.3
p.E58D
c.174G>C
1 paper
NM_001001524.3
p.V59I
c.175G>A
1 paper
NM_001001524.3
p.Y61Fs
c.181_182delinsAFs
3 papers
NM_001001524.3
p.A50V
c.149C>T
1 paper
NM_001001524.3
p.A50E
c.149C>A
2 papers
NM_001001524.3
p.V49L
c.145G>T
2 papers
NM_001001524.3
p.V49L
c.145G>C
1 paper
NM_001001524.3
p.V49M
c.145G>A
1 paper
NM_001001524.3
p.Y65C
c.194A>G
1 paper
NM_001001524.3
p.Y65S
c.194A>C
1 paper
NM_001001524.3
p.L46P
c.137T>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."