Varaico: Literature-Extracted Genetic Variants

Gene:AMY2B
Variant:p.F52V

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.F52V
c.154T>G
Surrounding Variants
1 paper
NM_001387437.1
p.F52I
c.154T>A
1 paper
NM_001387437.1
p.F52L
c.154T>C
1 paper
NM_001387437.1
p.F52Y
c.155T>A
1 paper
NM_001387437.1
p.F52S
c.155T>C
1 paper
NM_001387437.1
p.F52C
c.155T>G
1 paper
NM_001387437.1
p.G51E
c.152G>A
1 paper
NM_001387437.1
p.G51A
c.152G>C
1 paper
NM_001387437.1
p.G51V
c.152G>T
1 paper
NM_001387437.1
p.F52L
c.156T>A
1 paper
NM_001387437.1
p.F52L
c.156T>G
1 paper
NM_001387437.1
p.G51R
c.151G>A
1 paper
NM_001387437.1
p.G53R
c.157G>A
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