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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ACE

Variant:p.L61L

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

3 papers

chr17:63477275 C>T

NM_000789.4

p.L61L

c.181C>T

Peptidase_M2

Exome: 0.0% (AC=72, hom=0)Genome: 0.0% (AC=8, hom=0)15 overlapping SVs

Surrounding Variants

3 papers

chr17:63477276 T>A

NM_000789.4

p.L61Q

c.182T>A

Peptidase_M2

Exome: 0.0% (AC=11, hom=0)Genome: 0.0% (AC=1, hom=0)15 overlapping SVs

1 paper

chr17:63477276 T>C

NM_000789.4

p.L61P

c.182T>C

Peptidase_M2

Exome: 0.0% (AC=4, hom=0)Genome: n/a15 overlapping SVs

1 paper

chr17:63477277 G>A

NM_000789.4

p.L61L

c.183G>A

Peptidase_M2

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

1 paper

chr17:63477273 T>A

NM_000789.4

p.V60E

c.179T>A

Peptidase_M2

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

1 paper

chr17:63477273 T>C

NM_000789.4

p.V60A

c.179T>C

Peptidase_M2

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

1 paper

chr17:63477272 G>C

NM_000789.4

p.V60L

c.178G>C

Peptidase_M2

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

1 paper

chr17:63477278 T>C

NM_000789.4

p.F62L

c.184T>C

Peptidase_M2

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

4 papers

chr17:63477279 T>C

NM_000789.4

p.F62S

c.185T>C

Peptidase_M2

Exome: 0.0% (AC=11, hom=0)Genome: n/a15 overlapping SVs

1 paper

chr17:63477280 C>A

NM_000789.4

p.F62L

c.186C>A

Peptidase_M2

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

1 paper

chr17:63477280 C>G

NM_000789.4

p.F62L

c.186C>G

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

chr17:63477269 C>T

NM_000789.4

p.Q59*

c.175C>T

Peptidase_M2

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