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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ACE

Variant:p.H71Q

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr17:63477307 C>G

NM_000789.4

p.H71Q

c.213C>G

Peptidase_M2

Exome: 0.0% (AC=180, hom=1)Genome: 0.0% (AC=18, hom=0)15 overlapping SVs

Surrounding Variants

1 paper

chr17:63477307 C>A

NM_000789.4

p.H71Q

c.213C>A

Peptidase_M2

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=2, hom=0)15 overlapping SVs

3 papers

chr17:63477308 G>T

NM_000789.4

p.D72Y

c.214G>T

Peptidase_M2

Exome: 0.0% (AC=11, hom=0)Genome: 0.0% (AC=4, hom=0)15 overlapping SVs

1 paper

chr17:63477309 A>G

NM_000789.4

p.D72G

c.215A>G

Peptidase_M2

Exome: 0.0% (AC=0, hom=0)Genome: n/a15 overlapping SVs

3 papers

chr17:63477305 C>T

NM_000789.4

p.H71Y

c.211C>T

Peptidase_M2

Exome: 0.0% (AC=17, hom=0)Genome: 0.0% (AC=1, hom=0)15 overlapping SVs

1 paper

chr17:63477304 G>T

NM_000789.4

p.A70A

c.210G>T

Peptidase_M2

Exome: 0.0% (AC=1, hom=0)Genome: n/a15 overlapping SVs

1 paper

chr17:63477311 A>C

NM_000789.4

p.T73P

c.217A>C

Peptidase_M2

Exome: 0.0% (AC=1, hom=0)Genome: n/a15 overlapping SVs

3 papers

chr17:63477311 A>G

NM_000789.4

p.T73A

c.217A>G

Peptidase_M2

Exome: 0.0% (AC=0, hom=0)Genome: n/a15 overlapping SVs

1 paper

chr17:63477311 A>T

NM_000789.4

p.T73S

c.217A>T

Peptidase_M2

Exome: 0.0% (AC=2, hom=0)Genome: n/a15 overlapping SVs

1 paper

chr17:63477303 C>T

NM_000789.4

p.A70V

c.209C>T

Peptidase_M2

Exome: 0.0% (AC=137, hom=1)Genome: 0.1% (AC=210, hom=2)15 overlapping SVs

1 paper

chr17:63477312 C>A

NM_000789.4

p.T73N

c.218C>A

Peptidase_M2

Exome: 0.0% (AC=0, hom=0)Genome: n/a15 overlapping SVs

1 paper

chr17:63477312 C>G

NM_000789.4

p.T73S

c.218C>G

Peptidase_M2

Exome: 0.0% (AC=0, hom=0)Genome: n/a15 overlapping SVs

1 paper

chr17:63477312 C>T

NM_000789.4

p.T73I

c.218C>T

Peptidase_M2

Exome: 0.0% (AC=0, hom=0)Genome: n/a15 overlapping SVs

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