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

1–12 of 633 variants

25 papers

NM_001041.4

p.V577G

c.1730T>G

25 papers

NM_001041.4

p.G1073D

c.3218G>A

16 papers

NM_001041.4

p.F1745C

c.5234T>G

15 papers

NM_001041.4

p.V15F

c.43G>T

14 papers

NM_001041.4

p.Q1098P

c.3293A>C

12 papers

NM_001041.4

p.R1124*

c.3370C>T

11 papers

NM_001041.4

p.R91_G92delFs

c.273_274delCT

11 papers

NM_001041.4

p.Y975H

c.2923T>C

10 papers

NM_001041.4

p.E643K

c.1927G>A

9 papers

NM_001041.4

p.S288C

c.863C>G

9 papers

NM_001041.4

p.R1367G

c.4099A>G

8 papers

NM_001041.4

p.R774G

c.2320A>G