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.E668_H669Splc

c.2004+7G>A

Surrounding Variants

3 papers

NM_001041.4

p.E668D

c.2004A>T

1 paper

NM_001041.4

p.S664S

c.1992T>A

1 paper

NM_001041.4

p.N661Y

c.1981A>T

3 papers

NM_001041.4

p.R660K

c.1979G>A

1 paper

NM_001041.4

p.F658L

c.1972T>C

1 paper

NM_001041.4

p.R648delFs

c.1943delC

1 paper

NM_001041.4

p.E668_H669Splc

c.2004+76A>G

1 paper

NM_001041.4

p.C646C

c.1938C>T

1 paper

NM_001041.4

p.C646fs

c.1936_1937fs

1 paper

NM_001041.4

p.C646delFs

c.1936delA

1 paper

NM_001041.4

p.E644V

c.1931A>T

1 paper

NM_001041.4

p.E643G

c.1928A>G