Varaico: Literature-Extracted Genetic Variants

Gene:AMY2A
Variant:p.P49P

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.P49P
c.147G>C
Surrounding Variants
1 paper
NM_000699.4
p.P49P
c.147G>T
1 paper
NM_000699.4
p.P49L
c.146C>T
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.E42D
c.126A>T
1 paper
NM_000699.4
p.P19Q
c.56C>A
1 paper
NM_000699.4
p.F4L
c.12T>A
1 paper
NM_000699.4
p.F4L
c.12T>G
1 paper
NM_000699.4
p.F4L
c.10T>C
1 paper
NM_000699.4
p.E62K
c.184G>A
1 paper
NM_000699.4
p.P69T
c.205C>A
1 paper
NM_000699.4
p.W74S
c.221G>C
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."