Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.M147R

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.M147R
c.440T>G
Surrounding Variants
4 papers
NM_000789.4
p.M147T
c.440T>C
2 papers
NM_000789.4
p.M147V
c.439A>G
3 papers
NM_000789.4
p.M147_S148insFs
c.441_442ins5
3 papers
NM_000789.4
p.N146I
c.437A>T
3 papers
NM_000789.4
p.S148N
c.443G>A
1 paper
NM_000789.4
p.R149fs
c.445_446fs
5 papers
NM_000789.4
p.R149fs
c.445_446fs
2 papers
NM_000789.4
p.S145R
c.435C>A
2 papers
NM_000789.4
p.S145R
c.435C>G
1 paper
NM_000789.4
p.R149K
c.446G>A
3 papers
NM_000789.4
p.S145I
c.434G>T
2 papers
NM_000789.4
p.S145R
c.433A>C
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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."