Varaico: Literature-Extracted Genetic Variants

Gene:AMY2B
Variant:p.E42Q

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.E42Q
c.124G>C
Surrounding Variants
1 paper
NM_001387437.1
p.E42K
c.124G>A
1 paper
NM_001387437.1
p.E42A
c.125A>C
1 paper
NM_001387437.1
p.E42G
c.125A>G
1 paper
NM_001387437.1
p.E42V
c.125A>T
1 paper
NM_001387437.1
p.E42D
c.126A>C
2 papers
NM_001387437.1
p.E42D
c.126A>T
1 paper
NM_001387437.1
p.L41H
c.122T>A
1 paper
NM_001387437.1
p.L41P
c.122T>C
1 paper
NM_001387437.1
p.L41R
c.122T>G
1 paper
NM_001387437.1
p.L41I
c.121C>A
1 paper
NM_001387437.1
p.L41V
c.121C>G
1 paper
NM_001387437.1
p.L41F
c.121C>T
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