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.I23K

c.68T>A

Surrounding Variants

1 paper

NM_001041.4

p.I22T

c.65T>C

1 paper

NM_001041.4

p.V18_T21del4

c.52_62del12

1 paper

NM_001041.4

p.I25V

c.73A>G

1 paper

NM_001041.4

p.V20D

c.59T>A

1 paper

NM_001041.4

p.V20_A26insFs

c.59_77dup19

1 paper

NM_001041.4

p.A26_L27delFs

c.77_81del5

1 paper

NM_001041.4

p.F17insFs

c.50_51insT

1 paper

NM_001041.4

p.F17S

c.50T>C

15 papers

NM_001041.4

p.V15F

c.43G>T

1 paper

NM_001041.4

p.V15insFs

c.43_44insAT

1 paper

NM_001041.4

p.L31L

c.93A>G

1 paper

NM_001041.4

p.A32P

c.94G>C