Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.L20fs

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.L20fs
c.58_59fs
Surrounding Variants
8 papers
NM_000789.4
p.L20L
c.58T>C
4 papers
NM_000789.4
p.L20W
c.59T>G
4 papers
NM_000789.4
p.L19P
c.56T>C
1 paper
NM_000789.4
p.L21M
c.61C>A
2 papers
NM_000789.4
p.L19L
c.55C>T
1 paper
NM_000789.4
p.L18_L19insFs
c.54_55insA
7 papers
NM_000789.4
p.L21P
c.62T>C
3 papers
NM_000789.4
p.L18P
c.53T>C
1 paper
NM_000789.4
p.L18R
c.53T>G
1 paper
NM_000789.4
p.L22insFs
c.65_66ins4
4 papers
NM_000789.4
p.L22V
c.64C>G
1 paper
NM_000789.4
p.L18V
c.52C>G
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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."