Varaico: Literature-Extracted Genetic Variants

Gene:MGAM2
Variant:p.E9D

MGAM2

126 papers

Pfam Domains

Trefoilaa 43–87UCSCTrefoil (P-type) domain
Gal_mutarotas_2aa 116–284UCSCGlycosyl hydrolase 31 N-terminal galactose mutarotase-like domain
Glyco_hydro_31_2ndaa 325–675UCSCGlycosyl hydrolases family 31 TIM-barrel domain
Glyco_hydro_31_3rdaa 683–770UCSCGlycosyl hydrolase family 31 C-terminal domain
Trefoilaa 906–949UCSCTrefoil (P-type) domain
Glyco_hydro_31_2ndaa 1192–1576UCSCGlycosyl hydrolases family 31 TIM-barrel domain

Gene Aliases

HGNC Name

maltase-glucoamylase 2 (putative)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001293626.2
p.E9D
c.27A>C
Surrounding Variants
1 paper
NM_001293626.2
p.L17*
c.50T>A
1 paper
NM_001293626.2
p.L17*
c.50T>G
1 paper
NM_001293626.2
p.I22M
c.66A>G
1 paper
NM_001293626.2
p.Q48L
c.143A>T
1 paper
NM_001293626.2
p.Q58P
c.173A>C
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