Varaico: Literature-Extracted Genetic Variants

Gene:MDGA2
Variant:p.L35L

MDGA2

72 papers

Pfam Domains

Ig_3aa 44–114UCSCImmunoglobulin domain
Ig_3aa 134–219UCSCImmunoglobulin domain
Ig_3aa 241–314UCSCImmunoglobulin domain
I-setaa 341–435UCSCImmunoglobulin I-set domain
Ig_3aa 441–518UCSCImmunoglobulin domain
MAMaa 748–920UCSCMAM domain, meprin/A5/mu

Gene Aliases

HGNC Name

MAM domain containing glycosylphosphatidylinositol anchor 2

HGNC Previous Symbol

MAMDC1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001113498.3
p.L35L
c.105C>T
Surrounding Variants
1 paper
NM_001113498.3
p.R39Q
c.116G>A
1 paper
NM_001113498.3
p.R28delFs
c.83delC
1 paper
NM_001113498.3
p.R44H
c.131G>A
1 paper
NM_001113498.3
p.P55T
c.163C>A
1 paper
NM_001113498.3
p.W60fs
c.178_179fs
1 paper
NM_001113498.3
p.A6V
c.17C>T
1 paper
NM_001113498.3
p.G75C
c.223G>T
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