Varaico: Literature-Extracted Genetic Variants

AMY1B

25 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 75–242UCSCAlpha amylase, catalytic domain

Alpha-amylase_Caa 421–508UCSCAlpha amylase, C-terminal all-beta domain

Gene Aliases

HGNC Name

amylase alpha 1B

HGNC Previous Symbol

AMY1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001008218.2

p.V98M

c.292G>A

Surrounding Variants

1 paper

NM_001008218.2

p.W74L

c.221G>T

1 paper

NM_001008218.2

p.I108F

c.322A>T

1 paper

NM_001008218.2

p.F141C

c.422T>G

1 paper

NM_001008218.2

p.D150N

c.448G>A

1 paper

NM_001008218.2

p.D153Fs

c.458_459delinsTFs

1 paper

NM_001008218.2

p.N316Y

c.946A>T

1 paper

NM_001008218.2

p.G323A

c.968G>C

1 paper

NM_001008218.2

p.A325V

c.974C>T

1 paper

NM_001008218.2

p.A333T

c.997G>A

1 paper

NM_001008218.2

p.C477R

c.1429T>C