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.D604E

c.1812C>A

Surrounding Variants

1 paper

NM_001041.4

p.D604E

c.1812C>G

1 paper

NM_001041.4

p.D604Y

c.1810G>T

1 paper

NM_001041.4

p.D604N

c.1810G>A

1 paper

NM_001041.4

p.W601L

c.1802G>T

5 papers

NM_001041.4

p.H600Y

c.1798C>T

2 papers

NM_001041.4

p.A599A

c.1797G>T

1 paper

NM_001041.4

p.W609delFs

c.1827delC

1 paper

NM_001041.4

p.M612L

c.1834A>T

1 paper

NM_001041.4

p.M612I

c.1836G>A

1 paper

NM_001041.4

p.W614R

c.1840T>A

7 papers

NM_001041.4

p.S594P

c.1780T>C

1 paper

NM_001041.4

p.I616insFs

c.1847_1848insT