Varaico: Literature-Extracted Genetic Variants

Gene:ALS2CL
Variant:p.L576F

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
2 papers
NM_147129.5
p.L576F
c.1726C>T
Surrounding Variants
1 paper
NM_147129.5
p.P578R
c.1733C>G
1 paper
NM_147129.5
p.P580S
c.1738C>T
2 papers
NM_147129.5
p.S581I
c.1742G>T
1 paper
NM_147129.5
p.G569S
c.1705G>A
1 paper
NM_147129.5
p.G558C
c.1672G>T
1 paper
NM_147129.5
p.N549S
c.1646A>G
1 paper
NM_147129.5
p.D526V
c.1577A>T
1 paper
NM_147129.5
p.L521V
c.1561C>G
1 paper
NM_147129.5
p.V516_G517Splc
c.1549-2A>C
1 paper
NM_147129.5
p.G589D
c.1766G>A
1 paper
NM_147129.5
p.R598C
c.1792C>T
1 paper
NM_147129.5
p.R598H
c.1793G>A
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