Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.A154_K155delFs

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.A154_K155delFs
c.462_463delCA
Surrounding Variants
3 papers
NM_000789.4
p.A154V
c.461C>T
9 papers
NM_000789.4
p.A154T
c.460G>A
2 papers
NM_000789.4
p.A154S
c.460G>T
1 paper
NM_000789.4
p.V156insFs
c.466_467insGG
3 papers
NM_000789.4
p.T153I
c.458C>T
3 papers
NM_000789.4
p.T153A
c.457A>G
4 papers
NM_000789.4
p.K155N
c.465G>C
4 papers
NM_000789.4
p.K155N
c.465G>T
1 paper
NM_000789.4
p.V156I
c.466G>A
3 papers
NM_000789.4
p.V156F
c.466G>T
1 paper
NM_000789.4
p.S152C
c.455C>G
3 papers
NM_000789.4
p.S152T
c.454T>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."