Varaico: Literature-Extracted Genetic Variants

Gene:MDGA2
Variant:p.S499G

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.S499G
c.1495A>G
Surrounding Variants
1 paper
NM_001113498.3
p.G494_I495delFs
c.1482_1483delTT
1 paper
NM_001113498.3
p.Y484C
c.1451A>G
1 paper
NM_001113498.3
p.T469I
c.1406C>T
1 paper
NM_001113498.3
p.P466S
c.1396C>T
1 paper
NM_001113498.3
p.Q459R
c.1376A>G
1 paper
NM_001113498.3
p.M455I
c.1365G>T
1 paper
NM_001113498.3
p.R447H
c.1340G>A
1 paper
NM_001113498.3
p.R447S
c.1339C>A
2 papers
NM_001113498.3
p.R404*
c.1210C>T
2 papers
NM_001113498.3
p.K402delFs
c.1206delT
2 papers
NM_001113498.3
p.G403fs
c.1207_1208fs
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