Varaico: Literature-Extracted Genetic Variants

Gene:AMY2A
Variant:p.G89A

AMY2A

54 papers

RefSeq Summary

This gene encodes a member of the alpha-amylase family of proteins. Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, catalyzing the firs...

Pfam Domains

Alpha-amylaseaa 77–237UCSCAlpha amylase, catalytic domain
Alpha-amylase_Caa 421–508UCSCAlpha amylase, C-terminal all-beta domain

Gene Aliases

HGNC Name

amylase alpha 2A

HGNC Previous Symbol

AMY2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000699.4
p.G89A
c.266G>C
Surrounding Variants
1 paper
NM_000699.4
p.R95S
c.285A>C
1 paper
NM_000699.4
p.R95S
c.285A>T
1 paper
NM_000699.4
p.T99N
c.296C>A
1 paper
NM_000699.4
p.Y77N
c.229T>A
1 paper
NM_000699.4
p.N103S
c.308A>G
1 paper
NM_000699.4
p.W74S
c.221G>C
1 paper
NM_000699.4
p.P69T
c.205C>A
1 paper
NM_000699.4
p.E62K
c.184G>A
1 paper
NM_000699.4
p.G51R
c.151G>A
1 paper
NM_000699.4
p.G51R
c.151G>C
1 paper
NM_000699.4
p.P49P
c.147G>C
1 paper
NM_000699.4
p.P49P
c.147G>T
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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."