Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.M457delFs

ACE

3,179 papers

RefSeq Summary

This gene encodes an enzyme involved in blood pressure regulation and electrolyte balance. It catalyzes the conversion of angiotensin I into a physiologically active peptide angiotensin II. Angiotensi...

Pfam Domains

Peptidase_M2aa 40–623UCSCAngiotensin-converting enzyme
Peptidase_M2aa 643–1221UCSCAngiotensin-converting enzyme

Gene Aliases

HGNC Name

angiotensin I converting enzyme

HGNC Previous Symbol

DCP1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000789.4
p.M457delFs
c.1369delA
Surrounding Variants
1 paper
NM_000789.4
p.L455P
c.1364T>C
1 paper
NM_000789.4
p.L455R
c.1364T>G
1 paper
NM_000789.4
p.L455I
c.1363C>A
1 paper
NM_000789.4
p.L455V
c.1363C>G
2 papers
NM_000789.4
p.L455L
c.1363C>T
3 papers
NM_000789.4
p.K456Q
c.1366A>C
4 papers
NM_000789.4
p.L454*
c.1361T>A
1 paper
NM_000789.4
p.K456N
c.1368A>C
1 paper
NM_000789.4
p.L454fs
c.1360_1361fs
1 paper
NM_000789.4
p.M457fs
c.1369_1370fs
32 papers
NM_000789.4
p.Y453F
c.1358A>T
2 papers
NM_000789.4
p.M457R
c.1370T>G
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."