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

4 papers

NM_001041.4

p.P1071P

c.3213T>G

Surrounding Variants

25 papers

NM_001041.4

p.G1073D

c.3218G>A

1 paper

NM_001041.4

p.R1077*

c.3229C>T

1 paper

NM_001041.4

p.R1078R

c.3234G>A

1 paper

NM_001041.4

p.Y1063fs

c.3187_3188fs

1 paper

NM_001041.4

p.Y1063*

c.3189T>G

1 paper

NM_001041.4

p.Y1063*

c.3189T>A

3 papers

NM_001041.4

p.L1062_Y1063delFs

c.3186_3187delAA

1 paper

NM_001041.4

p.L1062I

c.3184C>A

1 paper

NM_001041.4

p.G1082E

c.3245G>A

1 paper

NM_001041.4

p.I1050N

c.3149T>A

1 paper

NM_001041.4

p.W1089*

c.3266G>A

1 paper

NM_001041.4

p.W1089*

c.3267G>A