Varaico: Literature-Extracted Genetic Variants

Gene:AMIGO2
Variant:p.L124*

AMIGO2

51 papers

Pfam Domains

LRR_8aa 93–153UCSCLeucine rich repeat
LRR_8aa 126–177UCSCLeucine rich repeat
Ig_3aa 297–367UCSCImmunoglobulin domain

Gene Aliases

HGNC Name

adhesion molecule with Ig like domain 2

HGNC Alias Symbols

ALI1; DEGA

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001370299.1
p.L124*
c.371T>A
Surrounding Variants
1 paper
NM_001370299.1
p.L124*
c.371T>G
1 paper
NM_001370299.1
p.L124V
c.370T>G
1 paper
NM_001370299.1
p.T131M
c.392C>T
1 paper
NM_001370299.1
p.F137F
c.411C>T
1 paper
NM_001370299.1
p.Q138R
c.413A>G
1 paper
NM_001370299.1
p.R101C
c.301C>T
1 paper
NM_001370299.1
p.L100L
c.300T>C
1 paper
NM_001370299.1
p.H152L
c.455A>T
1 paper
NM_001370299.1
p.Q166K
c.496C>A
1 paper
NM_001370299.1
p.L172F
c.516A>T
1 paper
NM_001370299.1
p.L172F
c.516A>C
1 paper
NM_001370299.1
p.S173R
c.517A>C
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