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

2 papers

NM_001365693.1

p.G466delFs

c.1396delG

Surrounding Variants

1 paper

NM_001365693.1

p.G466insFs

c.1396_1397insG

1 paper

NM_001365693.1

p.G466V

c.1397G>T

2 papers

NM_001365693.1

p.S462G

c.1384A>G

3 papers

NM_001365693.1

p.G471_S472delFs

c.1411_1414del4

1 paper

NM_001365693.1

p.N458N

c.1374C>T

1 paper

NM_001365693.1

p.N458_S459del1

c.1373_1375delACT

1 paper

NM_001365693.1

p.P453L

c.1358C>T

2 papers

NM_001365693.1

p.V478M

c.1432G>A

1 paper

NM_001365693.1

p.D452N

c.1354G>A

1 paper

NM_001365693.1

p.V451_D452Splc

c.1354-2A>G

1 paper

NM_001365693.1

p.D482A

c.1445A>C

9 papers

NM_001365693.1

p.G483R

c.1447G>A