Varaico: Literature-Extracted Genetic Variants

Gene:AMY2B
Variant:p.C43S

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.C43S
c.128G>C
Surrounding Variants
1 paper
NM_001387437.1
p.C43Y
c.128G>A
1 paper
NM_001387437.1
p.C43F
c.128G>T
1 paper
NM_001387437.1
p.C43S
c.127T>A
1 paper
NM_001387437.1
p.C43*
c.129T>A
1 paper
NM_001387437.1
p.C43R
c.127T>C
1 paper
NM_001387437.1
p.C43G
c.127T>G
1 paper
NM_001387437.1
p.C43W
c.129T>G
1 paper
NM_001387437.1
p.E42D
c.126A>C
2 papers
NM_001387437.1
p.E42D
c.126A>T
1 paper
NM_001387437.1
p.E44K
c.130G>A
1 paper
NM_001387437.1
p.E44Q
c.130G>C
1 paper
NM_001387437.1
p.E42A
c.125A>C
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