Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.A163T

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
2 papers
NM_000789.4
p.A163T
c.487G>A
Surrounding Variants
1 paper
NM_000789.4
p.A163S
c.487G>T
3 papers
NM_000789.4
p.A163D
c.488C>A
3 papers
NM_000789.4
p.A163V
c.488C>T
2 papers
NM_000789.4
p.T162insFs
c.485_486insT
3 papers
NM_000789.4
p.T162I
c.485C>T
1 paper
NM_000789.4
p.T162A
c.484A>G
1 paper
NM_000789.4
p.T164A
c.490A>G
9 papers
NM_000789.4
p.T164I
c.491C>T
1 paper
NM_000789.4
p.N160K
c.480C>G
2 papers
NM_000789.4
p.N160N
c.480C>T
7 papers
NM_000789.4
p.N160S
c.479A>G
3 papers
NM_000789.4
p.N160H
c.478A>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."