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.D118A

c.353A>C

Surrounding Variants

7 papers

NM_001041.4

p.Q117R

c.350A>G

1 paper

NM_001041.4

p.M119I

c.357G>T

1 paper

NM_001041.4

p.T121I

c.362C>T

1 paper

NM_001041.4

p.Y114insFs

c.340_341insT

1 paper

NM_001041.4

p.G113G

c.339T>A

1 paper

NM_001041.4

p.S123T

c.368G>C

1 paper

NM_001041.4

p.H112R

c.335A>G

1 paper

NM_001041.4

p.H112P

c.335A>C

1 paper

NM_001041.4

p.N111I

c.332A>T

1 paper

NM_001041.4

p.D110N

c.328G>A

1 paper

NM_001041.4

p.V109A

c.326T>C

1 paper

NM_001041.4

p.F108F

c.324C>T