Varaico: Literature-Extracted Genetic Variants

Gene:AMY2B
Variant:p.I108F

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.I108F
c.322A>T
Surrounding Variants
1 paper
NM_001387437.1
p.I108L
c.322A>C
1 paper
NM_001387437.1
p.I108V
c.322A>G
1 paper
NM_001387437.1
p.I108N
c.323T>A
1 paper
NM_001387437.1
p.I108T
c.323T>C
1 paper
NM_001387437.1
p.I108S
c.323T>G
3 papers
NM_001387437.1
p.R107H
c.320G>A
1 paper
NM_001387437.1
p.R107P
c.320G>C
1 paper
NM_001387437.1
p.R107L
c.320G>T
1 paper
NM_001387437.1
p.I108M
c.324T>G
1 paper
NM_001387437.1
p.R107S
c.319C>A
1 paper
NM_001387437.1
p.R107G
c.319C>G
1 paper
NM_001387437.1
p.R107C
c.319C>T
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