Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.L143M

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.L143M
c.427C>A
Surrounding Variants
1 paper
NM_000789.4
p.L143del1
c.427_429delCTG
1 paper
NM_000789.4
p.L143R
c.428T>G
1 paper
NM_000789.4
p.A142V
c.425C>T
2 papers
NM_000789.4
p.N141K
c.423C>A
2 papers
NM_000789.4
p.N141K
c.423C>G
2 papers
NM_000789.4
p.S145R
c.433A>C
1 paper
NM_000789.4
p.S145C
c.433A>T
2 papers
NM_000789.4
p.Y140*
c.420C>G
3 papers
NM_000789.4
p.S145I
c.434G>T
2 papers
NM_000789.4
p.S145R
c.435C>A
2 papers
NM_000789.4
p.S145R
c.435C>G
3 papers
NM_000789.4
p.Y140N
c.418T>A
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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."