Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.Y401F

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
3 papers
NM_000789.4
p.Y401F
c.1202A>T
Surrounding Variants
3 papers
NM_000789.4
p.Y401C
c.1202A>G
3 papers
NM_000789.4
p.Q400R
c.1199A>G
3 papers
NM_000789.4
p.K402M
c.1205A>T
4 papers
NM_000789.4
p.Q400K
c.1198C>A
3 papers
NM_000789.4
p.D403A
c.1208A>C
1 paper
NM_000789.4
p.L399L
c.1195C>T
4 papers
NM_000789.4
p.L404V
c.1210C>G
1 paper
NM_000789.4
p.P405A
c.1213C>G
1 paper
NM_000789.4
p.Y397Y
c.1191C>T
3 papers
NM_000789.4
p.P405R
c.1214C>G
4 papers
NM_000789.4
p.P405P
c.1215C>T
1 paper
NM_000789.4
p.Y397H
c.1189T>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."