Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.A419S

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
5 papers
NM_000789.4
p.A419S
c.1255G>T
Surrounding Variants
1 paper
NM_000789.4
p.A419V
c.1256C>T
1 paper
NM_000789.4
p.E418G
c.1253A>G
4 papers
NM_000789.4
p.I420V
c.1258A>G
4 papers
NM_000789.4
p.E418K
c.1252G>A
5 papers
NM_000789.4
p.I420T
c.1259T>C
1 paper
NM_000789.4
p.H417P
c.1250A>C
3 papers
NM_000789.4
p.H417R
c.1250A>G
2 papers
NM_000789.4
p.H417Y
c.1249C>T
1 paper
NM_000789.4
p.F416L
c.1248C>G
3 papers
NM_000789.4
p.G421E
c.1262G>A
1 paper
NM_000789.4
p.D422D
c.1266C>T
3 papers
NM_000789.4
p.G415D
c.1244G>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."