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.C646C

c.1938C>T

Surrounding Variants

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.R648delFs

c.1943delC

1 paper

NM_001041.4

p.E644V

c.1931A>T

1 paper

NM_001041.4

p.E643G

c.1928A>G

1 paper

NM_001041.4

p.E643*

c.1927G>T

10 papers

NM_001041.4

p.E643K

c.1927G>A

3 papers

NM_001041.4

p.E640G

c.1919A>G

1 paper

NM_001041.4

p.F637_E640del0

c.1910_1918del9

1 paper

NM_001041.4

p.A639T

c.1915G>A

1 paper

NM_001041.4

p.V638A

c.1913T>C

4 papers

NM_001041.4

p.V638L

c.1912G>T