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.S187N

c.560G>A

Surrounding Variants

1 paper

NM_001293626.2

p.R190K

c.569G>A

2 papers

NM_001293626.2

p.D176N

c.526G>A

3 papers

NM_001293626.2

p.T175delFs

c.525delT

1 paper

NM_001293626.2

p.N167D

c.499A>G

1 paper

NM_001293626.2

p.D143N

c.427G>A

1 paper

NM_001293626.2

p.T142_I147delFs

c.424_440del17

1 paper

NM_001293626.2

p.S116A

c.346T>G

1 paper

NM_001293626.2

p.P87L

c.260C>T

1 paper

NM_001293626.2

p.P82L

c.245C>T

1 paper

NM_001293626.2

p.A79_P82delFs

c.236_246del11

1 paper

NM_001293626.2

p.Q68L

c.203A>T

1 paper

NM_001293626.2

p.D194N

c.580G>A