Varaico: Literature-Extracted Genetic Variants

Gene:ACE2
Variant:p.K458N

ACE2

772 papers

RefSeq Summary

The protein encoded by this gene belongs to the angiotensin-converting enzyme family of dipeptidyl carboxydipeptidases and has considerable homology to human angiotensin 1 converting enzyme. This secr...

Pfam Domains

Peptidase_M2aa 19–606UCSCAngiotensin-converting enzyme
Collectrinaa 617–770UCSCRenal amino acid transporter
Collectrinaa 617–770UCSCRenal amino acid transporter

Gene Aliases

HGNC Name

angiotensin converting enzyme 2

HGNC Alias Symbol

ACEH

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
7 papers
NM_001371415.1
p.K458N
c.1374G>T
Surrounding Variants
6 papers
NM_001371415.1
p.K458N
c.1374G>C
1 paper
NM_001371415.1
p.W459G
c.1375T>G
1 paper
NM_001371415.1
p.K458M
c.1373A>T
7 papers
NM_001371415.1
p.K458R
c.1373A>G
2 papers
NM_001371415.1
p.K458T
c.1373A>C
3 papers
NM_001371415.1
p.K458E
c.1372A>G
3 papers
NM_001371415.1
p.K458Q
c.1372A>C
1 paper
NM_001371415.1
p.W459C
c.1377G>T
1 paper
NM_001371415.1
p.E457D
c.1371G>T
1 paper
NM_001371415.1
p.W459C
c.1377G>C
1 paper
NM_001371415.1
p.E457D
c.1371G>C
1 paper
NM_001371415.1
p.R460R
c.1380G>A
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