Varaico: Literature-Extracted Genetic Variants

Gene:AMY2B
Variant:p.D111H

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.D111H
c.331G>C
Surrounding Variants
1 paper
NM_001387437.1
p.D111N
c.331G>A
1 paper
NM_001387437.1
p.D111Y
c.331G>T
1 paper
NM_001387437.1
p.D111A
c.332A>C
1 paper
NM_001387437.1
p.D111G
c.332A>G
1 paper
NM_001387437.1
p.D111V
c.332A>T
1 paper
NM_001387437.1
p.V110E
c.329T>A
1 paper
NM_001387437.1
p.D111E
c.333T>A
1 paper
NM_001387437.1
p.V110A
c.329T>C
1 paper
NM_001387437.1
p.V110G
c.329T>G
1 paper
NM_001387437.1
p.D111E
c.333T>G
1 paper
NM_001387437.1
p.V110M
c.328G>A
1 paper
NM_001387437.1
p.A112T
c.334G>A
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