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.P1692Q

c.5075C>A

Surrounding Variants

1 paper

NM_001041.4

p.R1686C

c.5056C>T

1 paper

NM_001041.4

p.H1684Q

c.5052T>G

1 paper

NM_001041.4

p.H1684Q

c.5052T>A

1 paper

NM_001041.4

p.Y1702H

c.5104T>C

2 papers

NM_001041.4

p.V1667L

c.4999G>C

1 paper

NM_001041.4

p.V1667I

c.4999G>A

3 papers

NM_001041.4

p.V1651I

c.4951G>A

1 paper

NM_001041.4

p.L1640L

c.4920G>A

1 paper

NM_001041.4

p.Q1627L

c.4880A>T

3 papers

NM_001041.4

p.F1625V

c.4873T>G

1 paper

NM_001041.4

p.D1623A

c.4868A>C

1 paper

NM_001041.4

p.K1619delFs

c.4857delT