Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.I271I

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.I271I
c.813C>T
Surrounding Variants
1 paper
NM_000789.4
p.N272D
c.814A>G
3 papers
NM_000789.4
p.I271V
c.811A>G
2 papers
NM_000789.4
p.L273F
c.817C>T
4 papers
NM_000789.4
p.Y270N
c.808T>A
1 paper
NM_000789.4
p.L273P
c.818T>C
2 papers
NM_000789.4
p.L273L
c.819C>A
4 papers
NM_000789.4
p.L273L
c.819C>T
2 papers
NM_000789.4
p.R274delFs
c.820_821delAG
1 paper
NM_000789.4
p.R274insFs
c.821_822insG
2 papers
NM_000789.4
p.R274fs
c.820_821fs
4 papers
NM_000789.4
p.D268E
c.804C>A
3 papers
NM_000789.4
p.D268E
c.804C>G
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