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.Q979P

c.2936A>C

Surrounding Variants

1 paper

NM_001041.4

p.Y983*

c.2949T>G

11 papers

NM_001041.4

p.Y975H

c.2923T>C

1 paper

NM_001041.4

p.Y983*

c.2949T>A

1 paper

NM_001041.4

p.S987*

c.2960C>G

1 paper

NM_001041.4

p.S987*

c.2960C>A

1 paper

NM_001041.4

p.S991L

c.2972C>T

1 paper

NM_001041.4

p.Q1000P

c.2999A>C

1 paper

NM_001041.4

p.A1004S

c.3010G>T

1 paper

NM_001041.4

p.R1007K

c.3020G>A

1 paper

NM_001041.4

p.D1013V

c.3038A>T

1 paper

NM_001041.4

p.D1028Y

c.3082G>T

1 paper

NM_001041.4

p.D1028N

c.3082G>A