Varaico: Literature-Extracted Genetic Variants

MGAM

494 papers

RefSeq Summary

This gene encodes maltase-glucoamylase, which is a brush border membrane enzyme that plays a role in the final steps of digestion of starch. The protein has two catalytic sites identical to those of s...

Pfam Domains

Trefoilaa 90–133UCSCTrefoil (P-type) domain

Gal_mutarotas_2aa 164–329UCSCGlycosyl hydrolase 31 N-terminal galactose mutarotase-like domain

Glyco_hydro_31_2ndaa 370–726UCSCGlycosyl hydrolases family 31 TIM-barrel domain

Glyco_hydro_31_3rdaa 734–821UCSCGlycosyl hydrolase family 31 C-terminal domain

Trefoilaa 957–999UCSCTrefoil (P-type) domain

Glyco_hydro_31_2ndaa 1236–1622UCSCGlycosyl hydrolases family 31 TIM-barrel domain

Gene Aliases

HGNC Name

maltase-glucoamylase

HGNC Alias Name

alpha-glucosidase

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001365693.1

p.K186_L187Splc

c.559-1G>C

Surrounding Variants

1 paper

NM_001365693.1

p.Q190*

c.568C>T

1 paper

NM_001365693.1

p.F195L

c.583T>C

1 paper

NM_001365693.1

p.H199R

c.596A>G

1 paper

NM_001365693.1

p.E200K

c.598G>A

1 paper

NM_001365693.1

p.F205Y

c.614T>A

1 paper

NM_001365693.1

p.G207A

c.620G>C

1 paper

NM_001365693.1

p.N208K

c.624T>A

1 paper

NM_001365693.1

p.N208K

c.624T>G

1 paper

NM_001365693.1

p.A211G

c.632C>G

1 paper

NM_001365693.1

p.S212_Q216delins

c.635_646delinsCTC

3 papers

NM_001365693.1

p.T214T

c.642C>T

1 paper

NM_001365693.1

p.R235C

c.703C>T