Varaico: Literature-Extracted Genetic Variants

Gene:AMY2A
Variant:p.I387M

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
2 papers
NM_000699.4
p.I387M
c.1161T>G
Surrounding Variants
2 papers
NM_000699.4
p.N370N
c.1110T>C
1 paper
NM_000699.4
p.V432G
c.1295T>G
1 paper
NM_000699.4
p.K337R
c.1010A>G
1 paper
NM_000699.4
p.K337Q
c.1009A>C
1 paper
NM_000699.4
p.D332E
c.996T>A
1 paper
NM_000699.4
p.D332E
c.996T>G
1 paper
NM_000699.4
p.R282H
c.845G>A
1 paper
NM_000699.4
p.V280I
c.838G>A
1 paper
NM_000699.4
p.R267Q
c.800G>A
1 paper
NM_000699.4
p.G254S
c.760G>A
1 paper
NM_000699.4
p.G253S
c.757G>A
1 paper
NM_000699.4
p.L252M
c.754C>A
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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."