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

16 papers

NM_001041.4

p.F1745C

c.5234T>G

Surrounding Variants

1 paper

NM_001041.4

p.Q1749_T1750Splc

c.5247+1G>T

4 papers

NM_001041.4

p.G1760V

c.5279G>T

1 paper

NM_001041.4

p.G1760D

c.5279G>A

2 papers

NM_001041.4

p.T1767T

c.5301G>A

1 paper

NM_001041.4

p.G1778E

c.5333G>A

1 paper

NM_001041.4

p.T1780S

c.5338A>T

1 paper

NM_001041.4

p.S1795L

c.5384C>T

1 paper

NM_001041.4

p.T1802S

c.5404A>T

1 paper

NM_001041.4

p.T1802S

c.5405C>G

1 paper

NM_001041.4

p.R1808C

c.5422C>T

1 paper

NM_001041.4

p.L1811M

c.5431C>A

1 paper

NM_001041.4

p.R1704*

c.5110C>T