Varaico: Literature-Extracted Genetic Variants

Gene:ALS2CL
Variant:p.H230P

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.H230P
c.689A>C
Surrounding Variants
1 paper
NM_147129.5
p.V239I
c.715G>A
1 paper
NM_147129.5
p.T242M
c.725C>T
1 paper
NM_147129.5
p.V243V
c.729C>T
1 paper
NM_147129.5
p.P245T
c.733C>A
1 paper
NM_147129.5
p.R250H
c.749G>A
1 paper
NM_147129.5
p.F254L
c.760T>C
1 paper
NM_147129.5
p.F254L
c.762T>G
1 paper
NM_147129.5
p.F254L
c.762T>A
1 paper
NM_147129.5
p.Q206K
c.616C>A
1 paper
NM_147129.5
p.L196V
c.586C>G
1 paper
NM_147129.5
p.V187M
c.559G>A
1 paper
NM_147129.5
p.V186V
c.558G>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."