Varaico: Literature-Extracted Genetic Variants

Gene:ALS2CL
Variant:p.K816Q

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.K816Q
c.2446A>C
Surrounding Variants
1 paper
NM_147129.5
p.K810E
c.2428A>G
1 paper
NM_147129.5
p.D807_V808delFs
c.2419_2422del4
1 paper
NM_147129.5
p.D807fs
c.2419_2420fs
1 paper
NM_147129.5
p.E783G
c.2348A>G
1 paper
NM_147129.5
p.R782L
c.2345G>T
3 papers
NM_147129.5
p.R782W
c.2344C>T
1 paper
NM_147129.5
p.R851L
c.2552G>T
1 paper
NM_147129.5
p.R851Q
c.2552G>A
1 paper
NM_147129.5
p.K853N
c.2559G>T
1 paper
NM_147129.5
p.K853N
c.2559G>C
1 paper
NM_147129.5
p.L854Q
c.2561T>A
1 paper
NM_147129.5
p.V856L
c.2566G>T
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