Varaico: Literature-Extracted Genetic Variants

Gene:ALS2CL
Variant:p.E359K

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
4 papers
NM_147129.5
p.E359K
c.1075G>A
Surrounding Variants
1 paper
NM_147129.5
p.R364W
c.1090A>T
1 paper
NM_147129.5
p.R366Q
c.1097G>A
1 paper
NM_147129.5
p.G369C
c.1105G>T
1 paper
NM_147129.5
p.A349T
c.1045G>A
1 paper
NM_147129.5
p.D339N
c.1015G>A
1 paper
NM_147129.5
p.P334H
c.1001C>A
1 paper
NM_147129.5
p.A330fs
c.988_989fs
1 paper
NM_147129.5
p.Q304L
c.911A>T
1 paper
NM_147129.5
p.A298V
c.893C>T
1 paper
NM_147129.5
p.E293G
c.878A>G
1 paper
NM_147129.5
p.E291*
c.871G>T
1 paper
NM_147129.5
p.E291K
c.871G>A
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