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.Y1083H

c.3247T>C

Surrounding Variants

7 papers

NM_001365693.1

p.Q1081Q

c.3243A>G

1 paper

NM_001365693.1

p.S1076R

c.3228C>A

1 paper

NM_001365693.1

p.S1076R

c.3228C>G

1 paper

NM_001365693.1

p.S1076R

c.3226A>C

1 paper

NM_001365693.1

p.M1073V

c.3217A>G

1 paper

NM_001365693.1

p.G1093E

c.3278G>A

1 paper

NM_001365693.1

p.P1071P

c.3213C>T

1 paper

NM_001365693.1

p.E1095K

c.3283G>A

2 papers

NM_001365693.1

p.R1097C

c.3289C>T

1 paper

NM_001365693.1

p.R1098delFs

c.3294delG

1 paper

NM_001365693.1

p.K1099fs

c.3295_3296fs

1 paper

NM_001365693.1

p.S1100T

c.3299G>C