Varaico: Literature-Extracted Genetic Variants

Gene:AMY2A
Variant:p.M198I

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
3 papers
NM_000699.4
p.M198I
c.594G>C
Surrounding Variants
3 papers
NM_000699.4
p.M198I
c.594G>A
3 papers
NM_000699.4
p.M198I
c.594G>T
1 paper
NM_000699.4
p.E196V
c.587A>T
1 paper
NM_000699.4
p.L201V
c.601C>G
1 paper
NM_000699.4
p.E196K
c.586G>A
1 paper
NM_000699.4
p.I202T
c.605T>C
1 paper
NM_000699.4
p.E186D
c.558G>C
1 paper
NM_000699.4
p.E186D
c.558G>T
1 paper
NM_000699.4
p.H216L
c.647A>T
1 paper
NM_000699.4
p.T178S
c.533C>G
1 paper
NM_000699.4
p.T178S
c.532A>T
1 paper
NM_000699.4
p.D174E
c.522T>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."