Varaico: Literature-Extracted Genetic Variants

Gene:ALS2CL
Variant:p.G730S

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.G730S
c.2188G>A
Surrounding Variants
2 papers
NM_147129.5
p.R733*
c.2197C>T
1 paper
NM_147129.5
p.L736*
c.2207T>G
1 paper
NM_147129.5
p.L736*
c.2207T>A
1 paper
NM_147129.5
p.T751K
c.2252C>A
1 paper
NM_147129.5
p.A713T
c.2137G>A
1 paper
NM_147129.5
p.G704R
c.2110G>C
1 paper
NM_147129.5
p.G704R
c.2110G>A
1 paper
NM_147129.5
p.Q671*
c.2011C>T
3 papers
NM_147129.5
p.R782W
c.2344C>T
1 paper
NM_147129.5
p.R782L
c.2345G>T
1 paper
NM_147129.5
p.E783G
c.2348A>G
1 paper
NM_147129.5
p.D807fs
c.2419_2420fs
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