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.H711delins

c.2132_2133delinsGG

Surrounding Variants

1 paper

NM_001365693.1

p.N714delFs

c.2140delA

1 paper

NM_001365693.1

p.S708F

c.2123C>T

1 paper

NM_001365693.1

p.I715V

c.2143A>G

2 papers

NM_001365693.1

p.L705P

c.2114T>C

1 paper

NM_001365693.1

p.S703F

c.2108C>T

1 paper

NM_001365693.1

p.G700V

c.2099G>T

1 paper

NM_001365693.1

p.G700R

c.2098G>A

1 paper

NM_001365693.1

p.G700R

c.2098G>C

1 paper

NM_001365693.1

p.G700*

c.2098G>T

1 paper

NM_001365693.1

p.D695N

c.2083G>A

1 paper

NM_001365693.1

p.F728F

c.2184C>T

2 papers

NM_001365693.1

p.D693insFs

c.2078dupA