Varaico: Literature-Extracted Genetic Variants

Gene:AMY2B
Variant:p.T86P

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.T86P
c.256A>C
Surrounding Variants
1 paper
NM_001387437.1
p.T86A
c.256A>G
1 paper
NM_001387437.1
p.T86S
c.256A>T
1 paper
NM_001387437.1
p.T86K
c.257C>A
1 paper
NM_001387437.1
p.C85W
c.255C>G
1 paper
NM_001387437.1
p.T86R
c.257C>G
1 paper
NM_001387437.1
p.T86I
c.257C>T
1 paper
NM_001387437.1
p.C85Y
c.254G>A
1 paper
NM_001387437.1
p.C85S
c.254G>C
1 paper
NM_001387437.1
p.C85F
c.254G>T
1 paper
NM_001387437.1
p.R87G
c.259A>G
1 paper
NM_001387437.1
p.C85S
c.253T>A
1 paper
NM_001387437.1
p.C85R
c.253T>C
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