Varaico: Literature-Extracted Genetic Variants

MGAM2

7q34 (UCSC)GTEx

126 papers

Pfam Domains

Trefoilaa 43–87UCSCTrefoil (P-type) domain

Gal_mutarotas_2aa 116–284UCSCGlycosyl hydrolase 31 N-terminal galactose mutarotase-like domain

Glyco_hydro_31_2ndaa 325–675UCSCGlycosyl hydrolases family 31 TIM-barrel domain

Glyco_hydro_31_3rdaa 683–770UCSCGlycosyl hydrolase family 31 C-terminal domain

Trefoilaa 906–949UCSCTrefoil (P-type) domain

Glyco_hydro_31_2ndaa 1192–1576UCSCGlycosyl hydrolases family 31 TIM-barrel domain

Gene Aliases

HGNC Name

maltase-glucoamylase 2 (putative)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001293626.2

p.P590S

c.1768C>T

Surrounding Variants

1 paper

NM_001293626.2

p.D584A

c.1751A>C

1 paper

NM_001293626.2

p.A579E

c.1736C>A

1 paper

NM_001293626.2

p.A579T

c.1735G>A

3 papers

NM_001293626.2

p.G576R

c.1726G>A

1 paper

NM_001293626.2

p.N606S

c.1817A>G

1 paper

NM_001293626.2

p.I607N

c.1820T>A

1 paper

NM_001293626.2

p.C619R

c.1855T>C

1 paper

NM_001293626.2

p.D644N

c.1930G>A

3 papers

NM_001293626.2

p.P645P

c.1935C>A

1 paper

NM_001293626.2

p.T674T

c.2022C>G

1 paper

NM_001293626.2

p.R682W

c.2044C>T

1 paper

NM_001293626.2

p.T685M

c.2054C>T