Varaico: Literature-Extracted Genetic Variants

Gene:AMY2B
Variant:p.N103I

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.N103I
c.308A>T
Surrounding Variants
1 paper
NM_001387437.1
p.N103T
c.308A>C
1 paper
NM_001387437.1
p.N103S
c.308A>G
1 paper
NM_001387437.1
p.N103H
c.307A>C
1 paper
NM_001387437.1
p.N103D
c.307A>G
2 papers
NM_001387437.1
p.N103Y
c.307A>T
1 paper
NM_001387437.1
p.N103K
c.309T>A
1 paper
NM_001387437.1
p.N103K
c.309T>G
1 paper
NM_001387437.1
p.N102K
c.306C>A
1 paper
NM_001387437.1
p.N102K
c.306C>G
1 paper
NM_001387437.1
p.V104I
c.310G>A
1 paper
NM_001387437.1
p.V104L
c.310G>C
1 paper
NM_001387437.1
p.V104F
c.310G>T
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