Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.A29E

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.A29E
c.86C>A
Surrounding Variants
1 paper
NM_000789.4
p.A29T
c.85G>A
1 paper
NM_000789.4
p.L30_D31insG
c.88_92ins3
1 paper
NM_000789.4
p.L28Q
c.83T>A
1 paper
NM_000789.4
p.L30*
c.89T>A
3 papers
NM_000789.4
p.L30S
c.89T>C
1 paper
NM_000789.4
p.L28insFs
c.84dupG
1 paper
NM_000789.4
p.L28L
c.82C>T
3 papers
NM_000789.4
p.L30F
c.90G>C
3 papers
NM_000789.4
p.L30F
c.90G>T
1 paper
NM_000789.4
p.A27A
c.81C>A
1 paper
NM_000789.4
p.A27A
c.81C>G
4 papers
NM_000789.4
p.A27A
c.81C>T
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."