Varaico: Literature-Extracted Genetic Variants

Gene:AMY2B
Variant:p.G119R

AMY2B

58 papers

RefSeq Summary

Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, and thus catalyze the first step in digestion of dietary starch and glycogen. The human...

Pfam Domains

Alpha-amylaseaa 73–236UCSCAlpha amylase, catalytic domain
Alpha-amylase_Caa 421–508UCSCAlpha amylase, C-terminal all-beta domain

Gene Aliases

HGNC Name

amylase alpha 2B

HGNC Previous Symbol

AMY2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001387437.1
p.G119R
c.355G>C
Surrounding Variants
1 paper
NM_001387437.1
p.G119S
c.355G>A
1 paper
NM_001387437.1
p.G119C
c.355G>T
1 paper
NM_001387437.1
p.G119D
c.356G>A
1 paper
NM_001387437.1
p.G119A
c.356G>C
1 paper
NM_001387437.1
p.G119V
c.356G>T
1 paper
NM_001387437.1
p.S118Y
c.353C>A
1 paper
NM_001387437.1
p.S118C
c.353C>G
1 paper
NM_001387437.1
p.S118F
c.353C>T
1 paper
NM_001387437.1
p.N120H
c.358A>C
1 paper
NM_001387437.1
p.N120D
c.358A>G
1 paper
NM_001387437.1
p.N120Y
c.358A>T
1 paper
NM_001387437.1
p.S118T
c.352T>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."