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

11 papers

NM_001041.4

p.R91_G92delFs

c.273_274delCT

Surrounding Variants

1 paper

NM_001041.4

p.G92D

c.275G>A

5 papers

NM_001041.4

p.G92fs

c.274_275fs

1 paper

NM_001041.4

p.C93S

c.277T>A

1 paper

NM_001041.4

p.R91T

c.272G>C

1 paper

NM_001041.4

p.R91delFs

c.271delT

2 papers

NM_001041.4

p.R91G

c.271A>G

1 paper

NM_001041.4

p.C94delFs

c.281_282delGC

1 paper

NM_001041.4

p.R96G

c.286A>G

1 paper

NM_001041.4

p.I87S

c.260T>G

1 paper

NM_001041.4

p.P97P

c.291G>A

1 paper

NM_001041.4

p.G86R

c.256G>C

1 paper

NM_001041.4

p.G86R

c.256G>A