Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.L1265R

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.L1265R
c.3794T>G
Surrounding Variants
1 paper
NM_000789.4
p.L1265P
c.3794T>C
3 papers
NM_000789.4
p.G1266D
c.3797G>A
2 papers
NM_001178057.2
p.I652I
c.1956C>T
NM_000789.4
p.I1267I
c.3801C>T
1 paper
NM_000789.4
p.L1263F
c.3787C>T
3 papers
NM_000789.4
p.A1268T
c.3802G>A
1 paper
NM_000789.4
p.W1260*
c.3779G>A
3 papers
NM_000789.4
p.L1270P
c.3809T>C
3 papers
NM_000789.4
p.Q1259P
c.3776A>C
3 papers
NM_000789.4
p.A1272T
c.3814G>A
3 papers
NM_000789.4
p.A1272G
c.3815C>G
3 papers
NM_000789.4
p.G1258D
c.3773G>A
3 papers
NM_000789.4
p.G1258S
c.3772G>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."