Varaico: Literature-Extracted Genetic Variants

SI

817 papers

RefSeq Summary

This gene encodes a sucrase-isomaltase enzyme that is expressed in the intestinal brush border. The encoded protein is synthesized as a precursor protein that is cleaved by pancreatic proteases into t...

Pfam Domains

Trefoilaa 63–109UCSCTrefoil (P-type) domain

Gal_mutarotas_2aa 135–304UCSCGlycosyl hydrolase 31 N-terminal galactose mutarotase-like domain

Glyco_hydro_31_2ndaa 345–702UCSCGlycosyl hydrolases family 31 TIM-barrel domain

Glyco_hydro_31_3rdaa 710–797UCSCGlycosyl hydrolase family 31 C-terminal domain

Trefoilaa 933–977UCSCTrefoil (P-type) domain

Gal_mutarotas_2aa 1005–1175UCSCGlycosyl hydrolase 31 N-terminal galactose mutarotase-like domain

Gene Aliases

HGNC Name

sucrase-isomaltase

HGNC Previous Name

sucrase-isomaltase (alpha-glucosidase)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001041.4

p.F295S

c.884T>C

Surrounding Variants

4 papers

NM_001041.4

p.G293R

c.877G>C

2 papers

NM_001041.4

p.G293S

c.877G>A

1 paper

NM_001041.4

p.F292L

c.876C>G

1 paper

NM_001041.4

p.N298D

c.892A>G

1 paper

NM_001041.4

p.N298T

c.893A>C

1 paper

NM_001041.4

p.S299N

c.896G>A

1 paper

NM_001041.4

p.K290E

c.868A>G

1 paper

NM_001041.4

p.G289insFs

c.866dupG

1 paper

NM_001041.4

p.G289E

c.866G>A

9 papers

NM_001041.4

p.S288C

c.863C>G

1 paper

NM_001041.4

p.E303K

c.907G>A

1 paper

NM_001041.4

p.D286A

c.857A>C