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.V877I

c.2629G>A

Surrounding Variants

1 paper

NM_001365693.1

p.C873W

c.2619T>G

1 paper

NM_001365693.1

p.R881C

c.2641C>T

1 paper

NM_001365693.1

p.E883G

c.2648A>G

1 paper

NM_001365693.1

p.N895S

c.2684A>G

1 paper

NM_001365693.1

p.F899fs

c.2695_2696fs

2 papers

NM_001365693.1

p.G906R

c.2716G>A

4 papers

NM_001365693.1

p.T907M

c.2720C>T

1 paper

NM_001365693.1

p.E908fs

c.2722_2723fs

1 paper

NM_001365693.1

p.E908delFs

c.2724delG

1 paper

NM_001365693.1

p.V913insFs

c.2737dupG

1 paper

NM_001365693.1

p.T914Fs

c.2741delinsCAGFs

1 paper

NM_001365693.1

p.G919D

c.2756G>A