Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.I75F

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
3 papers
NM_000789.4
p.I75F
c.223A>T
Surrounding Variants
4 papers
NM_000789.4
p.N74K
c.222C>A
4 papers
NM_000789.4
p.N74K
c.222C>G
1 paper
NM_000789.4
p.N74N
c.222C>T
3 papers
NM_000789.4
p.I75N
c.224T>A
1 paper
NM_000789.4
p.I75T
c.224T>C
1 paper
NM_000789.4
p.I75S
c.224T>G
4 papers
NM_000789.4
p.N74T
c.221A>C
4 papers
NM_000789.4
p.N74S
c.221A>G
2 papers
NM_000789.4
p.I75I
c.225C>T
1 paper
NM_000789.4
p.N74H
c.220A>C
1 paper
NM_000789.4
p.T76P
c.226A>C
4 papers
NM_000789.4
p.N74D
c.220A>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."