Varaico: Literature-Extracted Genetic Variants

Gene:AMY2B
Variant:p.K2N

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.K2N
c.6G>C
Surrounding Variants
1 paper
NM_001387437.1
p.K2N
c.6G>T
1 paper
NM_001387437.1
p.K2T
c.5A>C
1 paper
NM_001387437.1
p.K2M
c.5A>T
1 paper
NM_001387437.1
p.F3L
c.7T>C
1 paper
NM_001387437.1
p.F3V
c.7T>G
1 paper
NM_001387437.1
p.K2Q
c.4A>C
1 paper
NM_001387437.1
p.K2E
c.4A>G
1 paper
NM_001387437.1
p.F3Y
c.8T>A
1 paper
NM_001387437.1
p.F3L
c.9C>A
1 paper
NM_001387437.1
p.F3L
c.9C>G
2 papers
NM_001387437.1
p.F4L
c.10T>C
1 paper
NM_001387437.1
p.F4V
c.10T>G
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