Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.L12L

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.L12L
c.36G>A
Surrounding Variants
1 paper
NM_000789.4
p.L12V
c.34C>G
4 papers
NM_000789.4
p.L16_P24del0
c.47_70del24
4 papers
NM_000789.4
p.L13P
c.38T>C
2 papers
NM_000789.4
p.G11G
c.33G>A
2 papers
NM_000789.4
p.G11E
c.32G>A
3 papers
NM_000789.4
p.L13_P15del0
c.38_43del6
5 papers
NM_000789.4
p.L13_P17del0
c.38_49del12
4 papers
NM_000789.4
p.G11R
c.31G>A
5 papers
NM_000789.4
p.G11R
c.31G>C
4 papers
NM_000789.4
p.L14P
c.41T>C
1 paper
NM_000789.4
p.P10P
c.30G>A
1 paper
NM_000789.4
p.P15T
c.43C>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."