Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.R7_P10delFs

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.R7_P10delFs
c.21_30del10
Surrounding Variants
4 papers
NM_000789.4
p.S5W
c.14C>G
6 papers
NM_000789.4
p.S5L
c.14C>T
1 paper
NM_000789.4
p.S5S
c.15G>T
1 paper
NM_000789.4
p.S5A
c.13T>G
1 paper
NM_000789.4
p.S5fs
c.13_14fs
1 paper
NM_000789.4
p.A4A
c.12C>T
1 paper
NM_000789.4
p.G6S
c.16G>A
4 papers
NM_000789.4
p.G6R
c.16G>C
1 paper
NM_000789.4
p.A4_G11delFs
c.12_31del20
7 papers
NM_000789.4
p.G6A
c.17G>C
1 paper
NM_000789.4
p.G6V
c.17G>T
3 papers
NM_000789.4
p.G6G
c.18C>T
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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."