Varaico: Literature-Extracted Genetic Variants

Gene:AMY2B
Variant:p.R95S

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.R95S
c.285A>T
Surrounding Variants
1 paper
NM_001387437.1
p.R95S
c.285A>C
1 paper
NM_001387437.1
p.N96H
c.286A>C
1 paper
NM_001387437.1
p.N96D
c.286A>G
1 paper
NM_001387437.1
p.N96Y
c.286A>T
1 paper
NM_001387437.1
p.R95K
c.284G>A
1 paper
NM_001387437.1
p.R95T
c.284G>C
1 paper
NM_001387437.1
p.R95I
c.284G>T
1 paper
NM_001387437.1
p.N96T
c.287A>C
1 paper
NM_001387437.1
p.R95G
c.283A>G
1 paper
NM_001387437.1
p.N96S
c.287A>G
1 paper
NM_001387437.1
p.N96I
c.287A>T
1 paper
NM_001387437.1
p.N96K
c.288C>A
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