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.P1202T

c.3604C>A

Surrounding Variants

1 paper

NM_001041.4

p.P1202Q

c.3605C>A

5 papers

NM_001041.4

p.P1200S

c.3598C>T

1 paper

NM_001041.4

p.G1199A

c.3596G>C

1 paper

NM_001041.4

p.L1198M

c.3592T>A

2 papers

NM_001041.4

p.M1196fs

c.3586_3587fs

4 papers

NM_001041.4

p.M1196delFs

c.3586_3587delAT

1 paper

NM_001041.4

p.D1193N

c.3577G>A

1 paper

NM_001041.4

p.V1188I

c.3562G>A

1 paper

NM_001041.4

p.A1182S

c.3544G>T

5 papers

NM_001041.4

p.C1229Y

c.3686G>A

1 paper

NM_001041.4

p.A1162_A1172del0

c.3486_3515del30

1 paper

NM_001041.4

p.N1235delFs

c.3703delT