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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ACE

Variant:p.R259C

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

chr17:63480456 C>T

NM_000789.4

p.R259C

c.775C>T

Peptidase_M2

Exome: 0.0% (AC=28, hom=0)Genome: 0.0% (AC=5, hom=0)15 overlapping SVs

Surrounding Variants

1 paper

chr17:63480455 C>T

NM_000789.4

p.V258V

c.774C>T

Peptidase_M2

exact variant not in gnomAD15 overlapping SVs

7 papers

chr17:63480457 G>A

NM_000789.4

p.R259H

c.776G>A

Peptidase_M2

Exome: 0.0% (AC=14, hom=0)Genome: 0.0% (AC=2, hom=0)15 overlapping SVs

1 paper

chr17:63480459 C>A

NM_000789.4

p.R260S

c.778C>A

Peptidase_M2

Exome: 0.0% (AC=3, hom=0)Genome: n/a15 overlapping SVs

3 papers

chr17:63480459 C>T

NM_000789.4

p.R260C

c.778C>T

Peptidase_M2

Exome: 0.0% (AC=31, hom=0)Genome: 0.0% (AC=1, hom=0)15 overlapping SVs

6 papers

chr17:63480453 G>A

NM_000789.4

p.V258I

c.772G>A

Peptidase_M2

Exome: 0.0% (AC=9, hom=0)Genome: 0.0% (AC=2, hom=0)15 overlapping SVs

3 papers

chr17:63480452 C>A

NM_000789.4

p.F257L

c.771C>A

Peptidase_M2

exact variant not in gnomAD15 overlapping SVs

3 papers

chr17:63480452 C>G

NM_000789.4

p.F257L

c.771C>G

Peptidase_M2

Exome: 0.0% (AC=21, hom=0)Genome: 0.0% (AC=2, hom=0)15 overlapping SVs

6 papers

chr17:63480460 G>A

NM_000789.4

p.R260H

c.779G>A

Peptidase_M2

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

6 papers

chr17:63480462 G>T

NM_000789.4

p.A261S

c.781G>T

Peptidase_M2

Exome: 0.3% (AC=4288, hom=150)Genome: 2.7% (AC=4068, hom=179)15 overlapping SVs

3 papers

chr17:63480450 T>C

NM_000789.4

p.F257L

c.769T>C

Peptidase_M2

exact variant not in gnomAD15 overlapping SVs

2 papers

chr17:63480463 C>T

NM_000789.4

p.A261V

c.782C>T

Peptidase_M2

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=3, hom=0)15 overlapping SVs

2 papers

chr17:63480464 A>T

NM_000789.4

p.A261A

c.783A>T

Peptidase_M2

exact variant not in gnomAD15 overlapping SVs

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