Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.L34fs

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.L34fs
c.100_101fs
Surrounding Variants
1 paper
NM_000789.4
p.L34V
c.100C>G
3 papers
NM_000789.4
p.G33G
c.99G>A
1 paper
NM_000789.4
p.G33A
c.98G>C
1 paper
NM_000789.4
p.L34L
c.102G>C
3 papers
NM_000789.4
p.G33V
c.98G>T
4 papers
NM_000789.4
p.G33R
c.97G>A
3 papers
NM_000789.4
p.G33R
c.97G>C
1 paper
NM_000789.4
p.G33W
c.97G>T
2 papers
NM_000789.4
p.Q35L
c.104A>T
1 paper
NM_000789.4
p.P32H
c.95C>A
3 papers
NM_000789.4
p.P32T
c.94C>A
3 papers
NM_000789.4
p.P36T
c.106C>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."