Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ACE

Variant:p.T73T

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

chr17:63477313 C>T

NM_000789.4

p.T73T

c.219C>T

Peptidase_M2

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

Surrounding Variants

1 paper

chr17:63477314 A>C

NM_000789.4

p.N74H

c.220A>C

Peptidase_M2

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

4 papers

chr17:63477314 A>G

NM_000789.4

p.N74D

c.220A>G

Peptidase_M2

Exome: 0.0% (AC=16, hom=0)Genome: 0.0% (AC=1, hom=0)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

4 papers

chr17:63477315 A>C

NM_000789.4

p.N74T

c.221A>C

Peptidase_M2

Exome: 0.0% (AC=7, 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

4 papers

chr17:63477315 A>G

NM_000789.4

p.N74S

c.221A>G

Peptidase_M2

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

4 papers

chr17:63477316 C>A

NM_000789.4

p.N74K

c.222C>A

Peptidase_M2

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

4 papers

chr17:63477316 C>G

NM_000789.4

p.N74K

c.222C>G

Peptidase_M2

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

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."