Varaico: Literature-Extracted Genetic Variants

Gene:AMY2B
Variant:p.W73R

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.W73R
c.217T>C
Surrounding Variants
1 paper
NM_001387437.1
p.W73R
c.217T>A
1 paper
NM_001387437.1
p.W73G
c.217T>G
1 paper
NM_001387437.1
p.W73S
c.218G>C
1 paper
NM_001387437.1
p.W73L
c.218G>T
1 paper
NM_001387437.1
p.P72H
c.215C>A
1 paper
NM_001387437.1
p.P72R
c.215C>G
1 paper
NM_001387437.1
p.P72L
c.215C>T
1 paper
NM_001387437.1
p.W73C
c.219G>C
1 paper
NM_001387437.1
p.W73C
c.219G>T
1 paper
NM_001387437.1
p.P72T
c.214C>A
1 paper
NM_001387437.1
p.P72A
c.214C>G
1 paper
NM_001387437.1
p.P72S
c.214C>T
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