Varaico: Literature-Extracted Genetic Variants

Gene:AMY2B
Variant:p.N20S

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.N20S
c.59A>G
Surrounding Variants
1 paper
NM_001387437.1
p.N20T
c.59A>C
1 paper
NM_001387437.1
p.N20I
c.59A>T
1 paper
NM_001387437.1
p.N20H
c.58A>C
1 paper
NM_001387437.1
p.N20D
c.58A>G
1 paper
NM_001387437.1
p.N20Y
c.58A>T
1 paper
NM_001387437.1
p.N20K
c.60T>A
1 paper
NM_001387437.1
p.N20K
c.60T>G
1 paper
NM_001387437.1
p.T21P
c.61A>C
1 paper
NM_001387437.1
p.T21A
c.61A>G
1 paper
NM_001387437.1
p.T21S
c.61A>T
1 paper
NM_001387437.1
p.P19Q
c.56C>A
1 paper
NM_001387437.1
p.T21K
c.62C>A
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