Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.T235S

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.T235S
c.704C>G
Surrounding Variants
1 paper
NM_000789.4
p.P234H
c.701C>A
4 papers
NM_000789.4
p.P234S
c.700C>T
2 papers
NM_000789.4
p.F236F
c.708C>T
1 paper
NM_000789.4
p.S233S
c.699C>G
1 paper
NM_000789.4
p.S233S
c.699C>T
3 papers
NM_000789.4
p.E237K
c.709G>A
1 paper
NM_000789.4
p.E237Q
c.709G>C
3 papers
NM_000789.4
p.S233F
c.698C>T
3 papers
NM_000789.4
p.S233T
c.697T>A
1 paper
NM_000789.4
p.N232K
c.696C>A
1 paper
NM_000789.4
p.N232K
c.696C>G
3 papers
NM_000789.4
p.N232T
c.695A>C
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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."