Varaico: Literature-Extracted Genetic Variants

Gene:AMY2B
Variant:p.I114F

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.I114F
c.340A>T
Surrounding Variants
1 paper
NM_001387437.1
p.I114L
c.340A>C
1 paper
NM_001387437.1
p.I114V
c.340A>G
1 paper
NM_001387437.1
p.I114N
c.341T>A
1 paper
NM_001387437.1
p.I114T
c.341T>C
1 paper
NM_001387437.1
p.I114S
c.341T>G
1 paper
NM_001387437.1
p.V113E
c.338T>A
1 paper
NM_001387437.1
p.V113A
c.338T>C
1 paper
NM_001387437.1
p.V113G
c.338T>G
1 paper
NM_001387437.1
p.I114M
c.342T>G
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
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