Varaico: Literature-Extracted Genetic Variants

Gene:AMY2B
Variant:p.P136R

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.P136R
c.407C>G
Surrounding Variants
1 paper
NM_001387437.1
p.P136H
c.407C>A
1 paper
NM_001387437.1
p.P136L
c.407C>T
1 paper
NM_001387437.1
p.P136T
c.406C>A
1 paper
NM_001387437.1
p.P136A
c.406C>G
1 paper
NM_001387437.1
p.P136S
c.406C>T
1 paper
NM_001387437.1
p.N135K
c.405C>A
1 paper
NM_001387437.1
p.N135K
c.405C>G
1 paper
NM_001387437.1
p.G137R
c.409G>A
1 paper
NM_001387437.1
p.G137R
c.409G>C
1 paper
NM_001387437.1
p.N135T
c.404A>C
1 paper
NM_001387437.1
p.N135S
c.404A>G
1 paper
NM_001387437.1
p.N135I
c.404A>T
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