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.W1373_A1375del3

c.4117_4124del9

Surrounding Variants

1 paper

NM_001041.4

p.I1378S

c.4133T>G

9 papers

NM_001041.4

p.R1367G

c.4099A>G

1 paper

NM_001041.4

p.G1390G

c.4170T>A

1 paper

NM_001041.4

p.D1394E

c.4182T>G

1 paper

NM_001041.4

p.D1394E

c.4182T>A

1 paper

NM_001041.4

p.N1396_E1397insG

c.4186_4190ins3

1 paper

NM_001041.4

p.E1397K

c.4189G>A

3 papers

NM_001041.4

p.E1414K

c.4240G>A

3 papers

NM_001041.4

p.R1411_E1414del4

c.4231_4241del12

3 papers

NM_001041.4

p.Y1417*

c.4251T>G

3 papers

NM_001041.4

p.Y1417*

c.4251T>A

1 paper

NM_001041.4

p.R1427insFs

c.4279_4280insA