Varaico: Literature-Extracted Genetic Variants

Gene:ALS2CL
Variant:p.E291*

ALS2CL

95 papers

Pfam Domains

PH_alsinaa 218–321UCSCAlsin PH-like domain
MORNaa 358–378UCSCMORN repeat
MORNaa 409–430UCSCMORN repeat
MORNaa 432–450UCSCMORN repeat
MORNaa 459–480UCSCMORN repeat
MORNaa 483–503UCSCMORN repeat

Gene Aliases

HGNC Name

ALS2 C-terminal like

HGNC Alias Symbols

FLJ36525; RN49018; DKFZp686I0110

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_147129.5
p.E291*
c.871G>T
Surrounding Variants
1 paper
NM_147129.5
p.E291K
c.871G>A
1 paper
NM_147129.5
p.T289M
c.866C>T
1 paper
NM_147129.5
p.E293G
c.878A>G
1 paper
NM_147129.5
p.T284M
c.851C>T
1 paper
NM_147129.5
p.A298V
c.893C>T
1 paper
NM_147129.5
p.Q304L
c.911A>T
1 paper
NM_147129.5
p.G282Splc
c.845+16G>A
1 paper
NM_147129.5
p.Q280E
c.838C>G
1 paper
NM_147129.5
p.T268S
c.803C>G
1 paper
NM_147129.5
p.T268S
c.802A>T
1 paper
NM_147129.5
p.A330fs
c.988_989fs
1 paper
NM_147129.5
p.P334H
c.1001C>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."