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

3 papers

NM_001365693.1

p.G483R

c.1447G>C

Surrounding Variants

9 papers

NM_001365693.1

p.G483R

c.1447G>A

1 paper

NM_001365693.1

p.G483V

c.1448G>T

1 paper

NM_001365693.1

p.D482A

c.1445A>C

1 paper

NM_001365693.1

p.T485I

c.1454C>T

1 paper

NM_001365693.1

p.L487P

c.1460T>C

2 papers

NM_001365693.1

p.V478M

c.1432G>A

1 paper

NM_001365693.1

p.I488T

c.1463T>C

6 papers

NM_001365693.1

p.G489R

c.1465G>A

3 papers

NM_001365693.1

p.G471_S472delFs

c.1411_1414del4

1 paper

NM_001365693.1

p.G466V

c.1397G>T

1 paper

NM_001365693.1

p.G466insFs

c.1396_1397insG

2 papers

NM_001365693.1

p.G466delFs

c.1396delG