Varaico: Literature-Extracted Genetic Variants

Gene:AMY2B
Variant:p.W149R

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.W149R
c.445T>C
Surrounding Variants
1 paper
NM_001387437.1
p.W149R
c.445T>A
1 paper
NM_001387437.1
p.W149G
c.445T>G
1 paper
NM_001387437.1
p.W149S
c.446G>C
1 paper
NM_001387437.1
p.W149L
c.446G>T
1 paper
NM_001387437.1
p.G148E
c.443G>A
1 paper
NM_001387437.1
p.G148A
c.443G>C
1 paper
NM_001387437.1
p.W149C
c.447G>C
1 paper
NM_001387437.1
p.G148V
c.443G>T
1 paper
NM_001387437.1
p.W149C
c.447G>T
2 papers
NM_001387437.1
p.D150N
c.448G>A
1 paper
NM_001387437.1
p.G148R
c.442G>A
1 paper
NM_001387437.1
p.G148R
c.442G>C
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