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

2 papers

NM_001041.4

p.E766A

c.2297A>C

Surrounding Variants

1 paper

NM_001041.4

p.D759H

c.2275G>C

1 paper

NM_001041.4

p.Q748_G749Splc

c.2244+2T>A

1 paper

NM_001041.4

p.Q748insFs

c.2242dupC

4 papers

NM_001041.4

p.L741P

c.2222T>C

1 paper

NM_001041.4

p.W736G

c.2206T>G

1 paper

NM_001041.4

p.T732P

c.2194A>C

1 paper

NM_001041.4

p.D731N

c.2191G>A

3 papers

NM_001041.4

p.E730*

c.2188G>T

1 paper

NM_001041.4

p.I729S

c.2186T>G

1 paper

NM_001041.4

p.E720D

c.2160G>T

1 paper

NM_001041.4

p.E720D

c.2160G>C

1 paper

NM_001041.4

p.E720A

c.2159A>C