Varaico: Literature-Extracted Genetic Variants

Gene:AMY2B
Variant:p.A143E

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.A143E
c.428C>A
Surrounding Variants
1 paper
NM_001387437.1
p.A143G
c.428C>G
1 paper
NM_001387437.1
p.A143V
c.428C>T
1 paper
NM_001387437.1
p.A143T
c.427G>A
1 paper
NM_001387437.1
p.A143P
c.427G>C
1 paper
NM_001387437.1
p.A143S
c.427G>T
1 paper
NM_001387437.1
p.V144I
c.430G>A
1 paper
NM_001387437.1
p.V144L
c.430G>C
1 paper
NM_001387437.1
p.V144F
c.430G>T
1 paper
NM_001387437.1
p.P142Q
c.425C>A
1 paper
NM_001387437.1
p.P142R
c.425C>G
1 paper
NM_001387437.1
p.P142L
c.425C>T
1 paper
NM_001387437.1
p.V144D
c.431T>A
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