Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.R119delFs

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.R119delFs
c.355delA
Surrounding Variants
1 paper
NM_000789.4
p.R118H
c.353G>A
3 papers
NM_000789.4
p.R118L
c.353G>T
4 papers
NM_000789.4
p.R118C
c.352C>T
5 papers
NM_000789.4
p.I120F
c.358A>T
1 paper
NM_000789.4
p.L117Q
c.350T>A
1 paper
NM_000789.4
p.L117L
c.349C>T
3 papers
NM_000789.4
p.I120T
c.359T>C
3 papers
NM_000789.4
p.I121V
c.361A>G
1 paper
NM_000789.4
p.I121F
c.361A>T
3 papers
NM_000789.4
p.I121T
c.362T>C
3 papers
NM_000789.4
p.I121M
c.363C>G
2 papers
NM_000789.4
p.P115Q
c.344C>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."