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

Selected Variant

2 papers

NM_001293626.2

p.V2098I

c.6292G>A

Surrounding Variants

2 papers

NM_001293626.2

p.N2080H

c.6238A>C

1 paper

NM_001293626.2

p.I2020M

c.6060C>G

1 paper

NM_001293626.2

p.V2018I

c.6052G>A

1 paper

NM_001293626.2

p.S2197C

c.6589A>T

1 paper

NM_001293626.2

p.S2199Y

c.6596C>A

1 paper

NM_001293626.2

p.S1987T

c.5960G>C

1 paper

NM_001293626.2

p.A1971D

c.5912C>A

1 paper

NM_001293626.2

p.T2244T

c.6732A>T

1 paper

NM_001293626.2

p.A1935G

c.5804C>G

1 paper

NM_001293626.2

p.S2261C

c.6782C>G

1 paper

NM_001293626.2

p.I1909N

c.5726T>A

1 paper

NM_001293626.2

p.T2330S

c.6988A>T