Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.R475H

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
4 papers
NM_000789.4
p.R475H
c.1424G>A
Surrounding Variants
5 papers
NM_000789.4
p.R475C
c.1423C>T
2 papers
NM_000789.4
p.R475R
c.1425C>T
4 papers
NM_000789.4
p.W474*
c.1422G>A
4 papers
NM_000789.4
p.W474*
c.1421G>A
4 papers
NM_000789.4
p.W474R
c.1420T>A
4 papers
NM_000789.4
p.W474R
c.1420T>C
1 paper
NM_000789.4
p.G477R
c.1429G>A
1 paper
NM_000789.4
p.G477R
c.1429G>C
3 papers
NM_000789.4
p.G477E
c.1430G>A
2 papers
NM_000789.4
p.V478fs
c.1432_1433fs
2 papers
NM_000789.4
p.F479L
c.1435T>C
3 papers
NM_000789.4
p.F479V
c.1435T>G
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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."