Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.G11E

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.G11E
c.32G>A
Surrounding Variants
3 papers
NM_000789.4
p.L13_P15del0
c.38_43del6
5 papers
NM_000789.4
p.L13_P17del0
c.38_49del12
4 papers
NM_000789.4
p.G11R
c.31G>A
2 papers
NM_000789.4
p.G11G
c.33G>A
5 papers
NM_000789.4
p.G11R
c.31G>C
1 paper
NM_000789.4
p.L12V
c.34C>G
4 papers
NM_000789.4
p.L16_P24del0
c.47_70del24
1 paper
NM_000789.4
p.P10P
c.30G>A
1 paper
NM_000789.4
p.P10_G11insFs
c.30_31insG
1 paper
NM_000789.4
p.P10L
c.29C>T
1 paper
NM_000789.4
p.P10A
c.28C>G
2 papers
NM_000789.4
p.P10S
c.28C>T
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