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.E522K

c.1564G>A

Surrounding Variants

1 paper

NM_001365693.1

p.E522E

c.1566G>A

4 papers

NM_001365693.1

p.V521I

c.1561G>A

1 paper

NM_001365693.1

p.Q520L

c.1559A>T

1 paper

NM_001365693.1

p.D524N

c.1570G>A

1 paper

NM_001365693.1

p.N519N

c.1557T>C

1 paper

NM_001365693.1

p.N519S

c.1556A>G

1 paper

NM_001365693.1

p.N519D

c.1555A>G

1 paper

NM_001365693.1

p.I526T

c.1577T>C

1 paper

NM_001365693.1

p.W527delFs

c.1579_1580delTG

1 paper

NM_001365693.1

p.W527G

c.1579T>G

1 paper

NM_001365693.1

p.I528V

c.1582A>G

1 paper

NM_001365693.1

p.E513G

c.1538A>G