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.D194N

c.580G>A

Surrounding Variants

1 paper

NM_001293626.2

p.D194A

c.581A>C

1 paper

NM_001293626.2

p.Y206*

c.618C>A

1 paper

NM_001293626.2

p.Y206*

c.618C>G

1 paper

NM_001293626.2

p.G222R

c.664G>A

1 paper

NM_001293626.2

p.K236_T246del11

c.706_737del33

1 paper

NM_001293626.2

p.T248I

c.743C>T

1 paper

NM_001293626.2

p.T248T

c.744C>T

1 paper

NM_001293626.2

p.R190K

c.569G>A

1 paper

NM_001293626.2

p.S187N

c.560G>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