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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ACE

Variant:p.T76S

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

4 papers

chr17:63477321 C>G

NM_000789.4

p.T76S

c.227C>G

Peptidase_M2

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

Surrounding Variants

1 paper

chr17:63477321 C>A

NM_000789.4

p.T76N

c.227C>A

Peptidase_M2

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

14 papers

chr17:63477321 C>T

NM_000789.4

p.T76I

c.227C>T

Peptidase_M2

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

1 paper

chr17:63477320 A>C

NM_000789.4

p.T76P

c.226A>C

Peptidase_M2

Exome: 0.0% (AC=14, hom=0)Genome: n/a15 overlapping SVs

2 papers

chr17:63477320 A>G

NM_000789.4

p.T76A

c.226A>G

Peptidase_M2

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

4 papers

chr17:63477320 A>T

NM_000789.4

p.T76S

c.226A>T

Peptidase_M2

Exome: 0.0% (AC=9, hom=0)Genome: 0.0% (AC=1, hom=0)15 overlapping SVs

2 papers

chr17:63477319 C>T

NM_000789.4

p.I75I

c.225C>T

Peptidase_M2

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

4 papers

chr17:63477323 G>A

NM_000789.4

p.A77T

c.229G>A

Peptidase_M2

Exome: 0.0% (AC=6, hom=0)Genome: 0.0% (AC=3, hom=0)15 overlapping SVs

3 papers

chr17:63477318 T>A

NM_000789.4

p.I75N

c.224T>A

Peptidase_M2

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

1 paper

chr17:63477318 T>C

NM_000789.4

p.I75T

c.224T>C

Peptidase_M2

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

1 paper

chr17:63477318 T>G

NM_000789.4

p.I75S

c.224T>G

Peptidase_M2

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

3 papers

chr17:63477317 A>T

NM_000789.4

p.I75F

c.223A>T

Peptidase_M2

Exome: n/aGenome: 0.0% (AC=2, hom=0)15 overlapping SVs

1 paper

chr17:63477325 G>A

NM_000789.4

p.A77A

c.231G>A

Peptidase_M2

Exome: 0.8% (AC=10227, hom=60)Genome: 0.7% (AC=994, hom=6)15 overlapping SVs

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."