Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.Q83_E84Splc

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.Q83_E84Splc
c.249+1G>A
Surrounding Variants
3 papers
NM_000789.4
p.Q83K
c.247C>A
2 papers
NM_000789.4
p.Q83*
c.247C>T
3 papers
NM_000789.4
p.R82L
c.245G>T
5 papers
NM_000789.4
p.R81T
c.242G>C
1 paper
NM_000789.4
p.R81ins0
c.241_243dupAGG
40 papers
NM_000789.4
p.A80A
c.240A>T
1 paper
NM_000789.4
p.A80E
c.239C>A
7 papers
NM_000789.4
p.A80T
c.238G>A
2 papers
NM_000789.4
p.A80P
c.238G>C
3 papers
NM_000789.4
p.N79D
c.235A>G
1 paper
NM_000789.4
p.E78delFs
c.234delG
1 paper
NM_000789.4
p.E78K
c.232G>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."