Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.P23A

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.P23A
c.67C>G
Surrounding Variants
3 papers
NM_000789.4
p.P23S
c.67C>T
4 papers
NM_000789.4
p.P23L
c.68C>T
2 papers
NM_000789.4
p.P23_P24insFs
c.69_70ins5
4 papers
NM_000789.4
p.P24del1
c.70_71delCCG
5 papers
NM_000789.4
p.P24T
c.70C>A
1 paper
NM_000789.4
p.L22insFs
c.65_66ins4
4 papers
NM_000789.4
p.L22V
c.64C>G
1 paper
NM_000789.4
p.P24P
c.72G>A
1 paper
NM_000789.4
p.P24_Q25insFs
c.72_73insC
1 paper
NM_000789.4
p.P24P
c.72G>T
7 papers
NM_000789.4
p.L21P
c.62T>C
1 paper
NM_000789.4
p.L21M
c.61C>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."