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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ACE

Variant:p.V65M

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

5 papers

chr17:63477287 G>A

NM_000789.4

p.V65M

c.193G>A

Peptidase_M2

Exome: 0.0% (AC=9, hom=2)Genome: 0.0% (AC=3, hom=0)15 overlapping SVs

Surrounding Variants

1 paper

chr17:63477288 T>A

NM_000789.4

p.V65E

c.194T>A

Peptidase_M2

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

1 paper

chr17:63477288 T>C

NM_000789.4

p.V65A

c.194T>C

Peptidase_M2

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

2 papers

chr17:63477285 G>A

NM_000789.4

p.S64N

c.191G>A

Peptidase_M2

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

3 papers

chr17:63477284 A>G

NM_000789.4

p.S64G

c.190A>G

Peptidase_M2

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

1 paper

chr17:63477284 A>T

NM_000789.4

p.S64C

c.190A>T

Peptidase_M2

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

3 papers

chr17:63477290 G>A

NM_000789.4

p.A66T

c.196G>A

Peptidase_M2

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

1 paper

chr17:63477290 G>T

NM_000789.4

p.A66S

c.196G>T

Peptidase_M2

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

3 papers

chr17:63477283 G>C

NM_000789.4

p.Q63H

c.189G>C

Peptidase_M2

Exome: 0.0% (AC=6, hom=0)Genome: n/a15 overlapping SVs

3 papers

chr17:63477283 G>T

NM_000789.4

p.Q63H

c.189G>T

Peptidase_M2

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

1 paper

chr17:63477281 C>A

NM_000789.4

p.Q63K

c.187C>A

Peptidase_M2

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

4 papers

chr17:63477281 C>T

NM_000789.4

p.Q63*

c.187C>T

Peptidase_M2

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

2 papers

chr17:63477293 G>A

NM_000789.4

p.A67T

c.199G>A

Peptidase_M2

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=0, hom=0)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."