Varaico: Literature-Extracted Genetic Variants

Gene:AMY2B
Variant:p.S27F

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.S27F
c.80C>T
Surrounding Variants
1 paper
NM_001387437.1
p.S27Y
c.80C>A
1 paper
NM_001387437.1
p.S27C
c.80C>G
1 paper
NM_001387437.1
p.S27T
c.79T>A
1 paper
NM_001387437.1
p.S27P
c.79T>C
1 paper
NM_001387437.1
p.S27A
c.79T>G
1 paper
NM_001387437.1
p.I28L
c.82A>C
1 paper
NM_001387437.1
p.I28V
c.82A>G
1 paper
NM_001387437.1
p.I28F
c.82A>T
1 paper
NM_001387437.1
p.T26K
c.77C>A
1 paper
NM_001387437.1
p.T26R
c.77C>G
1 paper
NM_001387437.1
p.T26I
c.77C>T
1 paper
NM_001387437.1
p.I28N
c.83T>A
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