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

1–12 of 527 variants

22 papers

NM_001365693.1

p.L854F

c.2560C>T

12 papers

NM_001365693.1

p.R672W

c.2014C>T

11 papers

NM_001365693.1

p.V643M

c.1927G>A

11 papers

NM_001365693.1

p.R672Q

c.2015G>A

9 papers

NM_001365693.1

p.G483R

c.1447G>A

9 papers

NM_001365693.1

p.E645K

c.1933G>A

7 papers

NM_001365693.1

p.Q1081Q

c.3243A>G

6 papers

NM_001365693.1

p.G489R

c.1465G>A

5 papers

NM_001365693.1

p.A175delFs

c.525delA

5 papers

NM_001365693.1

p.S545F

c.1634C>T

5 papers

NM_001365693.1

p.G619D

c.1856G>A

5 papers

NM_001365693.1

p.N647K

c.1941C>G