Varaico: Literature-Extracted Genetic Variants

Gene:AMY2B
Variant:p.Y17H

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.Y17H
c.49T>C
Surrounding Variants
1 paper
NM_001387437.1
p.Y17N
c.49T>A
1 paper
NM_001387437.1
p.Y17D
c.49T>G
1 paper
NM_001387437.1
p.Y17S
c.50A>C
1 paper
NM_001387437.1
p.Y17C
c.50A>G
1 paper
NM_001387437.1
p.Y17F
c.50A>T
1 paper
NM_001387437.1
p.Q16H
c.48G>C
1 paper
NM_001387437.1
p.Q16H
c.48G>T
1 paper
NM_001387437.1
p.Q16P
c.47A>C
1 paper
NM_001387437.1
p.Q16R
c.47A>G
1 paper
NM_001387437.1
p.Q16L
c.47A>T
1 paper
NM_001387437.1
p.Q16K
c.46C>A
1 paper
NM_001387437.1
p.Q16E
c.46C>G
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