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.S534C

c.1601C>G

Surrounding Variants

1 paper

NM_001365693.1

p.N535S

c.1604A>G

1 paper

NM_001365693.1

p.E532A

c.1595A>C

2 papers

NM_001365693.1

p.G539S

c.1615G>A

1 paper

NM_001365693.1

p.D529E

c.1587T>A

1 paper

NM_001365693.1

p.D529E

c.1587T>G

1 paper

NM_001365693.1

p.D529V

c.1586A>T

3 papers

NM_001365693.1

p.S540L

c.1619C>T

1 paper

NM_001365693.1

p.V541F

c.1621G>T

2 papers

NM_001365693.1

p.S542L

c.1625C>T

5 papers

NM_001365693.1

p.S545F

c.1634C>T

1 paper

NM_001365693.1

p.I528V

c.1582A>G

1 paper

NM_001365693.1

p.W527G

c.1579T>G