Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.R379W

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
4 papers
NM_000789.4
p.R379W
c.1135C>T
Surrounding Variants
6 papers
NM_000789.4
p.R379Q
c.1136G>A
3 papers
NM_000789.4
p.V380D
c.1139T>A
1 paper
NM_000789.4
p.C377Y
c.1130G>A
4 papers
NM_000789.4
p.T381S
c.1141A>T
6 papers
NM_000789.4
p.T381M
c.1142C>T
1 paper
NM_000789.4
p.Q376R
c.1127A>G
1 paper
NM_000789.4
p.T381T
c.1143G>A
3 papers
NM_000789.4
p.M382V
c.1144A>G
1 paper
NM_000789.4
p.Q376K
c.1126C>A
2 papers
NM_000789.4
p.K375N
c.1125G>C
1 paper
NM_000789.4
p.K375N
c.1125G>T
3 papers
NM_000789.4
p.M382T
c.1145T>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."