Varaico: Literature-Extracted Genetic Variants

Gene:AMY2B
Variant:p.Q78E

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.Q78E
c.232C>G
Surrounding Variants
1 paper
NM_001387437.1
p.Q78K
c.232C>A
1 paper
NM_001387437.1
p.Q78P
c.233A>C
1 paper
NM_001387437.1
p.Q78R
c.233A>G
1 paper
NM_001387437.1
p.Q78L
c.233A>T
1 paper
NM_001387437.1
p.Y77S
c.230A>C
1 paper
NM_001387437.1
p.Q78H
c.234A>C
1 paper
NM_001387437.1
p.Y77C
c.230A>G
1 paper
NM_001387437.1
p.Y77F
c.230A>T
1 paper
NM_001387437.1
p.Q78H
c.234A>T
1 paper
NM_001387437.1
p.P79T
c.235C>A
1 paper
NM_001387437.1
p.P79A
c.235C>G
1 paper
NM_001387437.1
p.P79S
c.235C>T
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