Varaico: Literature-Extracted Genetic Variants

Gene:AMY2B
Variant:p.L47I

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.L47I
c.139T>A
Surrounding Variants
1 paper
NM_001387437.1
p.L47V
c.139T>G
1 paper
NM_001387437.1
p.L47S
c.140T>C
1 paper
NM_001387437.1
p.Y46S
c.137A>C
1 paper
NM_001387437.1
p.L47F
c.141A>C
1 paper
NM_001387437.1
p.Y46C
c.137A>G
1 paper
NM_001387437.1
p.Y46F
c.137A>T
1 paper
NM_001387437.1
p.L47F
c.141A>T
1 paper
NM_001387437.1
p.A48T
c.142G>A
1 paper
NM_001387437.1
p.A48P
c.142G>C
1 paper
NM_001387437.1
p.A48S
c.142G>T
1 paper
NM_001387437.1
p.Y46N
c.136T>A
1 paper
NM_001387437.1
p.Y46H
c.136T>C
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