Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.W492*

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.W492*
c.1476G>A
Surrounding Variants
4 papers
NM_000789.4
p.W492*
c.1475G>A
2 papers
NM_000789.4
p.W493R
c.1477T>A
2 papers
NM_000789.4
p.W493R
c.1477T>C
3 papers
NM_000789.4
p.D491E
c.1473C>A
3 papers
NM_000789.4
p.D491E
c.1473C>G
1 paper
NM_000789.4
p.D491_W492Fs
c.1473_1475delinsAFs
3 papers
NM_000789.4
p.W493C
c.1479G>C
3 papers
NM_000789.4
p.W493C
c.1479G>T
3 papers
NM_000789.4
p.Y494D
c.1480T>G
1 paper
NM_000789.4
p.Y494F
c.1481A>T
3 papers
NM_000789.4
p.D491N
c.1471G>A
3 papers
NM_000789.4
p.D491fs
c.1471_1472fs
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