Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.P299delFs

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.P299delFs
c.897delT
Surrounding Variants
3 papers
NM_000789.4
p.P299T
c.895C>A
1 paper
NM_000789.4
p.P299fs
c.895_896fs
59 papers
NM_000789.4
p.V298V
c.894G>T
1 paper
NM_000789.4
p.F300L
c.898T>C
4 papers
NM_000789.4
p.F300fs
c.898_899fs
1 paper
NM_000789.4
p.V298G
c.893T>G
1 paper
NM_000789.4
p.F300L
c.900C>A
1 paper
NM_000789.4
p.F300L
c.900C>G
4 papers
NM_000789.4
p.V298M
c.892G>A
2 papers
NM_000789.4
p.P301S
c.901C>T
3 papers
NM_000789.4
p.P301L
c.902C>T
1 paper
NM_000789.4
p.V298_K303ins2
c.892_909dup18
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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."