Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.L16R

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.L16R
c.47T>G
Surrounding Variants
1 paper
NM_000789.4
p.L16Q
c.47T>A
4 papers
NM_000789.4
p.L16P
c.47T>C
1 paper
NM_000789.4
p.L16insFs
c.47_48ins4
1 paper
NM_000789.4
p.L16_P17insFs
c.48_49ins7
5 papers
NM_000789.4
p.P17S
c.49C>T
3 papers
NM_000789.4
p.P15Q
c.44C>A
1 paper
NM_000789.4
p.P17Q
c.50C>A
4 papers
NM_000789.4
p.P17R
c.50C>G
4 papers
NM_000789.4
p.P15L
c.44C>T
3 papers
NM_000789.4
p.P17L
c.50C>T
2 papers
NM_000789.4
p.L16del1
c.46_47delCTG
1 paper
NM_000789.4
p.L18_L19del0
c.52_57del6
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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."