Varaico: Literature-Extracted Genetic Variants

Gene:AMZ1
Variant:p.P448L

AMZ1

59 papers

Gene Aliases

HGNC Name

archaelysin family metallopeptidase 1

HGNC Alias Symbol

KIAA1950

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001384743.1
p.P448L
c.1343C>T
Surrounding Variants
1 paper
NM_001384743.1
p.P448P
c.1344G>A
2 papers
NM_001384743.1
p.T444M
c.1331C>T
3 papers
NM_001384743.1
p.S456R
c.1366A>C
3 papers
NM_001384743.1
p.S456R
c.1368C>A
3 papers
NM_001384743.1
p.S456R
c.1368C>G
2 papers
NM_001384743.1
p.R439C
c.1315C>T
2 papers
NM_001384743.1
p.A436V
c.1307C>T
1 paper
NM_001384743.1
p.V434M
c.1300G>A
2 papers
NM_001384743.1
p.D469N
c.1405G>A
1 paper
NM_001384743.1
p.R476K
c.1427G>A
1 paper
NM_001384743.1
p.R420W
c.1258C>T
1 paper
NM_001384743.1
p.R481*
c.1441C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."