Varaico: Literature-Extracted Genetic Variants

Gene:ALS2CL
Variant:p.V186V

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.V186V
c.558G>C
Surrounding Variants
1 paper
NM_147129.5
p.V187M
c.559G>A
1 paper
NM_147129.5
p.T182A
c.544A>G
1 paper
NM_147129.5
p.L196V
c.586C>G
1 paper
NM_147129.5
p.Q206K
c.616C>A
1 paper
NM_147129.5
p.I176T
c.527T>C
1 paper
NM_147129.5
p.G173R
c.517G>C
1 paper
NM_147129.5
p.G173R
c.517G>A
1 paper
NM_147129.5
p.S171R
c.513C>G
1 paper
NM_147129.5
p.S171R
c.513C>A
1 paper
NM_147129.5
p.S171R
c.511A>C
1 paper
NM_147129.5
p.A148T
c.442G>A
1 paper
NM_147129.5
p.S123S
c.369C>T
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