Varaico: Literature-Extracted Genetic Variants

Gene:ALS2CL
Variant:p.R644Splc

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.R644Splc
c.1931+8C>T
Surrounding Variants
1 paper
NM_147129.5
p.Q637*
c.1909C>T
1 paper
NM_147129.5
p.R634C
c.1900C>T
1 paper
NM_147129.5
p.G624S
c.1870G>A
1 paper
NM_147129.5
p.L623fs
c.1867_1868fs
1 paper
NM_147129.5
p.C611C
c.1833T>C
1 paper
NM_147129.5
p.P605T
c.1813C>A
1 paper
NM_147129.5
p.R598H
c.1793G>A
1 paper
NM_147129.5
p.R598C
c.1792C>T
1 paper
NM_147129.5
p.G589D
c.1766G>A
1 paper
NM_147129.5
p.Q671*
c.2011C>T
1 paper
NM_147129.5
p.G704R
c.2110G>C
1 paper
NM_147129.5
p.G704R
c.2110G>A
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