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

2 papers

NM_001293626.2

p.W746C

c.2238G>C

Surrounding Variants

1 paper

NM_001293626.2

p.W746*

c.2238G>A

2 papers

NM_001293626.2

p.W746C

c.2238G>T

2 papers

NM_001293626.2

p.W746*

c.2237G>A

1 paper

NM_001293626.2

p.R747K

c.2240G>A

1 paper

NM_001293626.2

p.G767D

c.2300G>A

1 paper

NM_001293626.2

p.A781D

c.2342C>A

1 paper

NM_001293626.2

p.L714F

c.2140C>T

1 paper

NM_001293626.2

p.L714delFs

c.2140delC

1 paper

NM_001293626.2

p.Y695H

c.2083T>C

1 paper

NM_001293626.2

p.T685M

c.2054C>T

1 paper

NM_001293626.2

p.R682W

c.2044C>T

1 paper

NM_001293626.2

p.T674T

c.2022C>G