Varaico: Literature-Extracted Genetic Variants

Gene:AMY2B
Variant:p.R71I

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.R71I
c.212G>T
Surrounding Variants
1 paper
NM_001387437.1
p.R71K
c.212G>A
1 paper
NM_001387437.1
p.R71T
c.212G>C
1 paper
NM_001387437.1
p.R71S
c.213A>C
1 paper
NM_001387437.1
p.R71G
c.211A>G
1 paper
NM_001387437.1
p.R71S
c.213A>T
1 paper
NM_001387437.1
p.F70L
c.210C>A
1 paper
NM_001387437.1
p.P72T
c.214C>A
1 paper
NM_001387437.1
p.F70L
c.210C>G
1 paper
NM_001387437.1
p.P72A
c.214C>G
1 paper
NM_001387437.1
p.P72S
c.214C>T
1 paper
NM_001387437.1
p.P72H
c.215C>A
1 paper
NM_001387437.1
p.P72R
c.215C>G
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