Varaico: Literature-Extracted Genetic Variants

Gene:AMY2B
Variant:p.N115S

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.N115S
c.344A>G
Surrounding Variants
1 paper
NM_001387437.1
p.N115T
c.344A>C
1 paper
NM_001387437.1
p.N115I
c.344A>T
1 paper
NM_001387437.1
p.N115H
c.343A>C
1 paper
NM_001387437.1
p.N115D
c.343A>G
1 paper
NM_001387437.1
p.N115Y
c.343A>T
1 paper
NM_001387437.1
p.N115K
c.345T>A
1 paper
NM_001387437.1
p.N115K
c.345T>G
1 paper
NM_001387437.1
p.H116N
c.346C>A
1 paper
NM_001387437.1
p.H116D
c.346C>G
1 paper
NM_001387437.1
p.H116Y
c.346C>T
1 paper
NM_001387437.1
p.I114M
c.342T>G
1 paper
NM_001387437.1
p.H116P
c.347A>C
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