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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PROK1

PROK1

88 papers

RefSeq Summary

The protein encoded by this gene induces proliferation, migration, and fenestration (the formation of membrane discontinuities) in capillary endothelial cells derived from endocrine glands. It has lit...

Pfam Domains

Prokineticinaa 1–97UCSCProkineticin

Gene Aliases

HGNC Name

prokineticin 1

HGNC Alias Symbols

PK1; PRK1; EGVEGF; EG-VEGF

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 46 variants

13 papers

chr1:110456232 G>A

NM_032414.3

p.V67I

c.199G>A

Prokineticin

Exome: 42.2% (AC=616032, hom=132065)Genome: 41.4% (AC=62912, hom=13280)235 overlapping SVs

3 papers

chr1:110451286 G>C

NM_032414.3

p.G24R

c.70G>C

Prokineticin

exact variant not in gnomAD235 overlapping SVs

3 papers

chr1:110454030 C>T

NM_032414.3

p.R48W

c.142C>T

Prokineticin

Exome: 0.2% (AC=2947, hom=60)Genome: 1.7% (AC=2660, hom=70)236 overlapping SVs

3 papers

chr1:110456250 C>T

NM_032414.3

p.R73C

c.217C>T

Prokineticin

Exome: 0.0% (AC=49, hom=0)Genome: 0.0% (AC=6, hom=0)235 overlapping SVs

3 papers

chr1:110456302 C>T

NM_032414.3

p.P90L

c.269C>T

Prokineticin

Exome: 0.0% (AC=236, hom=0)Genome: 0.0% (AC=8, hom=0)235 overlapping SVs

2 papers

chr1:110451228 C>G

NM_032414.3

p.A4A

c.12C>G

Prokineticin

exact variant not in gnomAD235 overlapping SVs

2 papers

chr1:110451229 A>G

NM_032414.3

p.T5A

c.13A>G

Prokineticin

exact variant not in gnomAD235 overlapping SVs

2 papers

chr1:110451264 G>C

NM_032414.3

p.V16V

c.48G>C

Prokineticin

exact variant not in gnomAD235 overlapping SVs

2 papers

chr1:110454021 C>T

NM_032414.3

p.R45*

c.133C>T

Prokineticin

Exome: 0.0% (AC=16, hom=0)Genome: 0.0% (AC=1, hom=0)236 overlapping SVs

1 paper

chr1:110451217 A>AT

NM_032414.3

p.M1insFs

c.2_3insT

Prokineticin

exact variant not in gnomAD235 overlapping SVs

1 paper

chr1:110451217 A>C

NM_032414.3

p.M1L

c.1A>C

Prokineticin

exact variant not in gnomAD235 overlapping SVs

1 paper

chr1:110451217 A>T

NM_032414.3

p.M1L

c.1A>T

Prokineticin

exact variant not in gnomAD235 overlapping SVs

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