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.G690insFs

c.2070dupC

Surrounding Variants

1 paper

NM_001365693.1

p.Y691insFs

c.2071_2072ins5

1 paper

NM_001365693.1

p.Y691insFs

c.2072_2073ins5

1 paper

NM_001365693.1

p.S683Y

c.2048C>A

1 paper

NM_001365693.1

p.G677D

c.2030G>A

1 paper

NM_001365693.1

p.Q675_L676del1

c.2024_2026delAGT

11 papers

NM_001365693.1

p.R672Q

c.2015G>A

12 papers

NM_001365693.1

p.R672W

c.2014C>T

2 papers

NM_001365693.1

p.G660D

c.1979G>A

1 paper

NM_001365693.1

p.K692_D693Splc

c.2077-5C>T

2 papers

NM_001365693.1

p.D693insFs

c.2078dupA

1 paper

NM_001365693.1

p.D695N

c.2083G>A

1 paper

NM_001365693.1

p.G700R

c.2098G>A