Varaico: Literature-Extracted Genetic Variants

Gene:AMY2B
Variant:p.S127R

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.S127R
c.379A>C
Surrounding Variants
1 paper
NM_001387437.1
p.S127G
c.379A>G
1 paper
NM_001387437.1
p.S127C
c.379A>T
1 paper
NM_001387437.1
p.S127N
c.380G>A
1 paper
NM_001387437.1
p.S127T
c.380G>C
1 paper
NM_001387437.1
p.S127I
c.380G>T
1 paper
NM_001387437.1
p.T126K
c.377C>A
1 paper
NM_001387437.1
p.S127R
c.381C>A
1 paper
NM_001387437.1
p.T126R
c.377C>G
1 paper
NM_001387437.1
p.S127R
c.381C>G
1 paper
NM_001387437.1
p.T126I
c.377C>T
1 paper
NM_001387437.1
p.T126P
c.376A>C
1 paper
NM_001387437.1
p.S128R
c.382A>C
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