Varaico: Literature-Extracted Genetic Variants

Gene:AMY2B
Variant:p.E93D

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.E93D
c.279A>T
Surrounding Variants
1 paper
NM_001387437.1
p.E93D
c.279A>C
1 paper
NM_001387437.1
p.E93A
c.278A>C
1 paper
NM_001387437.1
p.E93G
c.278A>G
1 paper
NM_001387437.1
p.E93V
c.278A>T
1 paper
NM_001387437.1
p.F94I
c.280T>A
1 paper
NM_001387437.1
p.F94L
c.280T>C
1 paper
NM_001387437.1
p.F94V
c.280T>G
1 paper
NM_001387437.1
p.E93K
c.277G>A
1 paper
NM_001387437.1
p.E93Q
c.277G>C
1 paper
NM_001387437.1
p.F94Y
c.281T>A
1 paper
NM_001387437.1
p.F94S
c.281T>C
1 paper
NM_001387437.1
p.F94C
c.281T>G
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