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.Y275Y

c.825C>T

Surrounding Variants

1 paper

NM_001041.4

p.N273_L274del2

c.817_821del6

1 paper

NM_001041.4

p.G276V

c.827G>T

1 paper

NM_001041.4

p.Q278E

c.832C>G

1 paper

NM_001041.4

p.N272K

c.816T>G

1 paper

NM_001041.4

p.N272K

c.816T>A

1 paper

NM_001041.4

p.T279S

c.835A>T

1 paper

NM_001041.4

p.N272S

c.815A>G

1 paper

NM_001041.4

p.N271D

c.811A>G

1 paper

NM_001041.4

p.F280_F281ins0

c.840_842dupCTT

1 paper

NM_001041.4

p.F281_M282del2

c.841_845del6

3 papers

NM_001041.4

p.E285*

c.853G>T

1 paper

NM_001041.4

p.E285K

c.853G>A