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.K5N

c.15A>C

Surrounding Variants

2 papers

NM_001041.4

p.K5N

c.15A>T

1 paper

NM_001041.4

p.K5K

c.15A>G

1 paper

NM_001041.4

p.K4Fs

c.12delinsCCAFs

1 paper

NM_001041.4

p.K4M

c.11A>T

1 paper

NM_001041.4

p.K4delins

c.10delinsT

2 papers

NM_001041.4

p.K4Fs

c.10delinsTCCCTGCTGAGCCTCCTACAGGCCTCCCGCFs

1 paper

NM_001041.4

p.K4insFs

c.10_11insT

1 paper

NM_001041.4

p.F6_S7delFs

c.18_21del4

2 papers

NM_001041.4

p.R3*

c.7A>T

2 papers

NM_001041.4

p.G8G

c.24A>T

1 paper

NM_001041.4

p.L9S

c.26T>C

1 paper

NM_001041.4

p.A2T

c.4G>A