Varaico: Literature-Extracted Genetic Variants

Gene:AMY2B
Variant:p.T129S

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.T129S
c.386C>G
Surrounding Variants
1 paper
NM_001387437.1
p.T129N
c.386C>A
1 paper
NM_001387437.1
p.T129I
c.386C>T
1 paper
NM_001387437.1
p.T129P
c.385A>C
1 paper
NM_001387437.1
p.T129A
c.385A>G
1 paper
NM_001387437.1
p.T129S
c.385A>T
1 paper
NM_001387437.1
p.S128R
c.384T>A
1 paper
NM_001387437.1
p.C130S
c.388T>A
1 paper
NM_001387437.1
p.C130R
c.388T>C
1 paper
NM_001387437.1
p.S128R
c.384T>G
1 paper
NM_001387437.1
p.C130G
c.388T>G
1 paper
NM_001387437.1
p.S128N
c.383G>A
1 paper
NM_001387437.1
p.C130Y
c.389G>A
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