Varaico: Literature-Extracted Genetic Variants

Gene:AMY2B
Variant:p.F12L

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.F12L
c.36C>G
Surrounding Variants
1 paper
NM_001387437.1
p.F12L
c.36C>A
1 paper
NM_001387437.1
p.F12Y
c.35T>A
1 paper
NM_001387437.1
p.C13S
c.37T>A
1 paper
NM_001387437.1
p.F12S
c.35T>C
1 paper
NM_001387437.1
p.C13R
c.37T>C
1 paper
NM_001387437.1
p.F12C
c.35T>G
1 paper
NM_001387437.1
p.C13G
c.37T>G
1 paper
NM_001387437.1
p.C13Y
c.38G>A
1 paper
NM_001387437.1
p.C13S
c.38G>C
1 paper
NM_001387437.1
p.C13F
c.38G>T
1 paper
NM_001387437.1
p.F12I
c.34T>A
1 paper
NM_001387437.1
p.F12L
c.34T>C
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