Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.A67P

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.A67P
c.199G>C
Surrounding Variants
2 papers
NM_000789.4
p.A67T
c.199G>A
3 papers
NM_000789.4
p.A67S
c.199G>T
2 papers
NM_000789.4
p.A67D
c.200C>A
4 papers
NM_000789.4
p.A67G
c.200C>G
34 papers
NM_000789.4
p.A67V
c.200C>T
3 papers
NM_000789.4
p.S68R
c.202A>C
1 paper
NM_000789.4
p.S68G
c.202A>G
1 paper
NM_000789.4
p.S68C
c.202A>T
3 papers
NM_000789.4
p.A66T
c.196G>A
1 paper
NM_000789.4
p.A66S
c.196G>T
3 papers
NM_000789.4
p.S68I
c.203G>T
3 papers
NM_000789.4
p.S68R
c.204C>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."