Varaico: Literature-Extracted Genetic Variants

Gene:AMY2B
Variant:p.V98M

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.V98M
c.292G>A
Surrounding Variants
1 paper
NM_001387437.1
p.V98L
c.292G>C
1 paper
NM_001387437.1
p.V98L
c.292G>T
1 paper
NM_001387437.1
p.M97I
c.291G>A
1 paper
NM_001387437.1
p.M97I
c.291G>C
1 paper
NM_001387437.1
p.M97I
c.291G>T
1 paper
NM_001387437.1
p.V98E
c.293T>A
1 paper
NM_001387437.1
p.V98A
c.293T>C
1 paper
NM_001387437.1
p.V98G
c.293T>G
1 paper
NM_001387437.1
p.M97K
c.290T>A
1 paper
NM_001387437.1
p.M97T
c.290T>C
1 paper
NM_001387437.1
p.M97R
c.290T>G
1 paper
NM_001387437.1
p.M97L
c.289A>C
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