Varaico: Literature-Extracted Genetic Variants

MGAM2

7q34 (UCSC)GTEx

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

1–12 of 132 variants

3 papers

NM_001293626.2

p.T175delFs

c.525delT

3 papers

NM_001293626.2

p.G576R

c.1726G>A

3 papers

NM_001293626.2

p.P645P

c.1935C>A

2 papers

NM_001293626.2

p.E9D

c.27A>C

2 papers

NM_001293626.2

p.D176N

c.526G>A

2 papers

NM_001293626.2

p.W746*

c.2237G>A

2 papers

NM_001293626.2

p.W746C

c.2238G>C

2 papers

NM_001293626.2

p.W746C

c.2238G>T

2 papers

NM_001293626.2

p.N2080H

c.6238A>C

2 papers

NM_001293626.2

p.V2098I

c.6292G>A

1 paper

NM_001293626.2

p.L17*

c.50T>A

1 paper

NM_001293626.2

p.L17*

c.50T>G