Varaico: Literature-Extracted Genetic Variants

Gene:AMY2B
Variant:p.L7L

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.L7L
c.21T>A
Surrounding Variants
1 paper
NM_001387437.1
p.L7H
c.20T>A
1 paper
NM_001387437.1
p.L7R
c.20T>G
1 paper
NM_001387437.1
p.F8V
c.22T>G
1 paper
NM_001387437.1
p.L7V
c.19C>G
1 paper
NM_001387437.1
p.F8Y
c.23T>A
1 paper
NM_001387437.1
p.T9P
c.25A>C
1 paper
NM_001387437.1
p.T9A
c.25A>G
1 paper
NM_001387437.1
p.T9S
c.25A>T
1 paper
NM_001387437.1
p.L6S
c.17T>C
1 paper
NM_001387437.1
p.L6W
c.17T>G
1 paper
NM_001387437.1
p.T9N
c.26C>A
1 paper
NM_001387437.1
p.T9S
c.26C>G
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