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

8 papers

NM_001041.4

p.R774G

c.2320A>G

Surrounding Variants

1 paper

NM_001041.4

p.R771delFs

c.2311delT

2 papers

NM_001041.4

p.M780V

c.2338A>G

1 paper

NM_001041.4

p.L782F

c.2344C>T

1 paper

NM_001041.4

p.D785G

c.2354A>G

1 paper

NM_001041.4

p.H790R

c.2369A>G

1 paper

NM_001041.4

p.L791I

c.2371C>A

2 papers

NM_001041.4

p.I799V

c.2395A>G

5 papers

NM_001041.4

p.E801*

c.2401G>T

2 papers

NM_001041.4

p.E766A

c.2297A>C

1 paper

NM_001041.4

p.D759H

c.2275G>C

1 paper

NM_001041.4

p.R810H

c.2429G>A

1 paper

NM_001041.4

p.K811insFs

c.2432_2433insC