Varaico: Literature-Extracted Genetic Variants

Gene:AMY2B
Variant:p.E62G

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.E62G
c.185A>G
Surrounding Variants
1 paper
NM_001387437.1
p.E62A
c.185A>C
1 paper
NM_001387437.1
p.E62V
c.185A>T
1 paper
NM_001387437.1
p.E62D
c.186A>C
1 paper
NM_001387437.1
p.E62D
c.186A>T
2 papers
NM_001387437.1
p.E62K
c.184G>A
1 paper
NM_001387437.1
p.E62Q
c.184G>C
1 paper
NM_001387437.1
p.N63H
c.187A>C
1 paper
NM_001387437.1
p.N63D
c.187A>G
1 paper
NM_001387437.1
p.N63Y
c.187A>T
1 paper
NM_001387437.1
p.N61K
c.183T>A
1 paper
NM_001387437.1
p.N61K
c.183T>G
1 paper
NM_001387437.1
p.N61T
c.182A>C
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