Varaico: Literature-Extracted Genetic Variants

Gene:AMY2B
Variant:p.R25W

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.R25W
c.73C>T
Surrounding Variants
1 paper
NM_001387437.1
p.R25G
c.73C>G
2 papers
NM_001387437.1
p.R25Q
c.74G>A
1 paper
NM_001387437.1
p.R25P
c.74G>C
1 paper
NM_001387437.1
p.R25L
c.74G>T
1 paper
NM_001387437.1
p.G24E
c.71G>A
1 paper
NM_001387437.1
p.G24A
c.71G>C
1 paper
NM_001387437.1
p.G24V
c.71G>T
1 paper
NM_001387437.1
p.T26P
c.76A>C
1 paper
NM_001387437.1
p.T26A
c.76A>G
1 paper
NM_001387437.1
p.T26S
c.76A>T
1 paper
NM_001387437.1
p.G24R
c.70G>A
1 paper
NM_001387437.1
p.G24R
c.70G>C
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