Varaico: Literature-Extracted Genetic Variants

Gene:AMY2B
Variant:p.T126S

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.T126S
c.376A>T
Surrounding Variants
1 paper
NM_001387437.1
p.T126P
c.376A>C
1 paper
NM_001387437.1
p.T126A
c.376A>G
1 paper
NM_001387437.1
p.T126K
c.377C>A
1 paper
NM_001387437.1
p.T126R
c.377C>G
1 paper
NM_001387437.1
p.T126I
c.377C>T
1 paper
NM_001387437.1
p.G125E
c.374G>A
1 paper
NM_001387437.1
p.G125A
c.374G>C
1 paper
NM_001387437.1
p.G125V
c.374G>T
1 paper
NM_001387437.1
p.S127R
c.379A>C
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.G125R
c.373G>A
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