Varaico: Literature-Extracted Genetic Variants

Gene:ALS2CL
Variant:p.E13G

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.E13G
c.38A>G
Surrounding Variants
1 paper
NM_147129.5
p.A8T
c.22G>A
1 paper
NM_147129.5
p.N3I
c.8A>T
1 paper
NM_147129.5
p.A34V
c.101C>T
1 paper
NM_147129.5
p.A35G
c.104C>G
1 paper
NM_147129.5
p.S39W
c.116C>G
6 papers
NM_147129.5
p.E45Q
c.133G>C
1 paper
NM_147129.5
p.L47delFs
c.139delG
1 paper
NM_147129.5
p.H54N
c.160C>A
1 paper
NM_147129.5
p.T64M
c.191C>T
5 papers
NM_147129.5
p.E65*
c.193G>T
1 paper
NM_147129.5
p.R76C
c.226C>T
1 paper
NM_147129.5
p.V95L
c.283G>T
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