Varaico: Literature-Extracted Genetic Variants

Gene:AMY2B
Variant:p.E33D

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.E33D
c.99A>T
Surrounding Variants
1 paper
NM_001387437.1
p.E33D
c.99A>C
1 paper
NM_001387437.1
p.E33A
c.98A>C
1 paper
NM_001387437.1
p.E33G
c.98A>G
1 paper
NM_001387437.1
p.E33V
c.98A>T
1 paper
NM_001387437.1
p.W34R
c.100T>A
1 paper
NM_001387437.1
p.W34R
c.100T>C
1 paper
NM_001387437.1
p.W34G
c.100T>G
1 paper
NM_001387437.1
p.E33K
c.97G>A
1 paper
NM_001387437.1
p.E33Q
c.97G>C
1 paper
NM_001387437.1
p.W34S
c.101G>C
1 paper
NM_001387437.1
p.W34L
c.101G>T
1 paper
NM_001387437.1
p.W34C
c.102G>C
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