Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.N445K

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
3 papers
NM_000789.4
p.N445K
c.1335T>G
Surrounding Variants
3 papers
NM_000789.4
p.N445K
c.1335T>A
4 papers
NM_000789.4
p.D446N
c.1336G>A
3 papers
NM_000789.4
p.N445D
c.1333A>G
3 papers
NM_000789.4
p.T447A
c.1339A>G
2 papers
NM_000789.4
p.T444_N445ins5
c.1330_1334ins15
4 papers
NM_000789.4
p.T447M
c.1340C>T
1 paper
NM_000789.4
p.E448G
c.1343A>G
6 papers
NM_000789.4
p.R442H
c.1325G>A
3 papers
NM_000789.4
p.R442C
c.1324C>T
5 papers
NM_000789.4
p.R442fs
c.1324_1325fs
2 papers
NM_000789.4
p.D441delFs
c.1323delC
3 papers
NM_000789.4
p.D441N
c.1321G>A
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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."