Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.S40insFs

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
1 paper
NM_000789.4
p.S40insFs
c.118_119ins17
Surrounding Variants
1 paper
NM_000789.4
p.N38K
c.114C>G
1 paper
NM_000789.4
p.N38T
c.113A>C
4 papers
NM_000789.4
p.N38S
c.113A>G
1 paper
NM_000789.4
p.N38I
c.113A>T
3 papers
NM_000789.4
p.F39L
c.115T>C
1 paper
NM_000789.4
p.F39Y
c.116T>A
1 paper
NM_000789.4
p.G37G
c.111C>A
2 papers
NM_000789.4
p.N38insFs
c.112_113insA
1 paper
NM_000789.4
p.N38_E43del6
c.112_128del18
2 papers
NM_000789.4
p.N38_F49del12
c.112_146del36
1 paper
NM_000789.4
p.S40T
c.118T>A
2 papers
NM_000789.4
p.S40P
c.118T>C
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