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

14 papers

NM_001041.4

p.Q1098P

c.3293A>C

Surrounding Variants

1 paper

NM_001041.4

p.Q1098*

c.3292C>T

1 paper

NM_001041.4

p.Q1098K

c.3292C>A

1 paper

NM_001041.4

p.I1100L

c.3298A>C

1 paper

NM_001041.4

p.S1103L

c.3308C>T

1 paper

NM_001041.4

p.F1093L

c.3277T>C

1 paper

NM_001041.4

p.W1089*

c.3267G>A

1 paper

NM_001041.4

p.W1089*

c.3266G>A

12 papers

NM_001041.4

p.R1124*

c.3370C>T

1 paper

NM_001041.4

p.M1133T

c.3398T>C

1 paper

NM_001041.4

p.P1139H

c.3416C>A

1 paper

NM_001041.4

p.P1140A

c.3418C>G

1 paper

NM_001041.4

p.G1082E

c.3245G>A