Varaico: Literature-Extracted Genetic Variants

Gene:ALS2CL
Variant:p.H381H

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.H381H
c.1143C>T
Surrounding Variants
1 paper
NM_147129.5
p.H381fs
c.1141_1142fs
1 paper
NM_147129.5
p.H381delFs
c.1142_1143delGT
1 paper
NM_147129.5
p.N384K
c.1152T>G
1 paper
NM_147129.5
p.N384K
c.1152T>A
1 paper
NM_147129.5
p.L389V
c.1165C>G
1 paper
NM_147129.5
p.E390K
c.1168G>A
1 paper
NM_147129.5
p.R396H
c.1187G>A
1 paper
NM_147129.5
p.L398V
c.1192C>G
1 paper
NM_147129.5
p.R441P
c.1322G>C
1 paper
NM_147129.5
p.R441Q
c.1322G>A
1 paper
NM_147129.5
p.P451L
c.1352C>T
1 paper
NM_147129.5
p.T460M
c.1379C>T
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