Varaico: Literature-Extracted Genetic Variants

Gene:AMY2B
Variant:p.N135D

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.N135D
c.403A>G
Surrounding Variants
1 paper
NM_001387437.1
p.N135H
c.403A>C
1 paper
NM_001387437.1
p.N135Y
c.403A>T
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
1 paper
NM_001387437.1
p.F134L
c.402C>A
1 paper
NM_001387437.1
p.F134L
c.402C>G
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.F134Y
c.401T>A
1 paper
NM_001387437.1
p.F134S
c.401T>C
1 paper
NM_001387437.1
p.F134C
c.401T>G
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