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.G859G

c.2577G>A

Surrounding Variants

4 papers

NM_001365693.1

p.N858D

c.2572A>G

1 paper

NM_001365693.1

p.T861M

c.2582C>T

22 papers

NM_001365693.1

p.L854F

c.2560C>T

3 papers

NM_001365693.1

p.K851K

c.2553A>G

1 paper

NM_001365693.1

p.L844_N847del0

c.2530_2541del12

1 paper

NM_001365693.1

p.I841_D845delFs

c.2522_2534del13

2 papers

NM_001365693.1

p.R834Q

c.2501G>A

1 paper

NM_001365693.1

p.C873W

c.2619T>G

1 paper

NM_001365693.1

p.V877I

c.2629G>A

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