Varaico: Literature-Extracted Genetic Variants

Gene:AMY2B
Variant:p.R45P

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.R45P
c.134G>C
Surrounding Variants
1 paper
NM_001387437.1
p.R45Q
c.134G>A
1 paper
NM_001387437.1
p.R45L
c.134G>T
1 paper
NM_001387437.1
p.R45G
c.133C>G
1 paper
NM_001387437.1
p.E44D
c.132G>C
1 paper
NM_001387437.1
p.E44D
c.132G>T
1 paper
NM_001387437.1
p.Y46N
c.136T>A
1 paper
NM_001387437.1
p.Y46H
c.136T>C
1 paper
NM_001387437.1
p.Y46D
c.136T>G
1 paper
NM_001387437.1
p.E44A
c.131A>C
1 paper
NM_001387437.1
p.Y46S
c.137A>C
1 paper
NM_001387437.1
p.E44G
c.131A>G
1 paper
NM_001387437.1
p.Y46C
c.137A>G
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