Varaico: Literature-Extracted Genetic Variants

Gene:AMY2B
Variant:p.F32C

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.F32C
c.95T>G
Surrounding Variants
1 paper
NM_001387437.1
p.F32Y
c.95T>A
1 paper
NM_001387437.1
p.F32S
c.95T>C
1 paper
NM_001387437.1
p.F32I
c.94T>A
1 paper
NM_001387437.1
p.F32L
c.96T>A
1 paper
NM_001387437.1
p.F32L
c.94T>C
1 paper
NM_001387437.1
p.F32V
c.94T>G
1 paper
NM_001387437.1
p.F32L
c.96T>G
1 paper
NM_001387437.1
p.E33K
c.97G>A
1 paper
NM_001387437.1
p.E33Q
c.97G>C
1 paper
NM_001387437.1
p.E33A
c.98A>C
1 paper
NM_001387437.1
p.E33G
c.98A>G
1 paper
NM_001387437.1
p.E33V
c.98A>T
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