Varaico: Literature-Extracted Genetic Variants

Gene:AMY2B
Variant:p.N61H

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.N61H
c.181A>C
Surrounding Variants
1 paper
NM_001387437.1
p.N61D
c.181A>G
1 paper
NM_001387437.1
p.N61Y
c.181A>T
1 paper
NM_001387437.1
p.N61T
c.182A>C
1 paper
NM_001387437.1
p.N61S
c.182A>G
1 paper
NM_001387437.1
p.N61I
c.182A>T
1 paper
NM_001387437.1
p.P60Q
c.179C>A
1 paper
NM_001387437.1
p.P60R
c.179C>G
1 paper
NM_001387437.1
p.P60L
c.179C>T
1 paper
NM_001387437.1
p.N61K
c.183T>A
1 paper
NM_001387437.1
p.N61K
c.183T>G
1 paper
NM_001387437.1
p.P60T
c.178C>A
1 paper
NM_001387437.1
p.P60A
c.178C>G
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