Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.G6A

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
7 papers
NM_000789.4
p.G6A
c.17G>C
Surrounding Variants
1 paper
NM_000789.4
p.G6V
c.17G>T
3 papers
NM_000789.4
p.G6G
c.18C>T
1 paper
NM_000789.4
p.G6S
c.16G>A
4 papers
NM_000789.4
p.G6R
c.16G>C
4 papers
NM_000789.4
p.R7S
c.19C>A
4 papers
NM_000789.4
p.R7G
c.19C>G
1 paper
NM_000789.4
p.R7_G11delFs
c.21_31del11
1 paper
NM_000789.4
p.S5S
c.15G>T
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.R7_P10delFs
c.21_30del10
1 paper
NM_000789.4
p.R7P
c.20G>C
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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."