Varaico: Literature-Extracted Genetic Variants

Gene:AMY2B
Variant:p.W14C

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.W14C
c.42G>C
Surrounding Variants
1 paper
NM_001387437.1
p.W14C
c.42G>T
1 paper
NM_001387437.1
p.A15T
c.43G>A
1 paper
NM_001387437.1
p.W14S
c.41G>C
1 paper
NM_001387437.1
p.A15P
c.43G>C
1 paper
NM_001387437.1
p.W14L
c.41G>T
1 paper
NM_001387437.1
p.A15S
c.43G>T
1 paper
NM_001387437.1
p.A15D
c.44C>A
1 paper
NM_001387437.1
p.A15G
c.44C>G
2 papers
NM_001387437.1
p.A15V
c.44C>T
1 paper
NM_001387437.1
p.W14R
c.40T>A
1 paper
NM_001387437.1
p.W14R
c.40T>C
1 paper
NM_001387437.1
p.W14G
c.40T>G
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