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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PF4V1

PF4V1

10 papers

RefSeq Summary

The protein encoded by this gene is a chemokine that is highly similar to platelet factor 4. The encoded protein displays a strong antiangiogenic function and is regulated by chemokine (C-X-C motif) r...

Pfam Domains

IL8aa 42–101UCSCSmall cytokines (intecrine/chemokine), interleukin-8 like

Gene Aliases

HGNC Name

platelet factor 4 variant 1

HGNC Alias Symbols

SCYB4V1; CXCL4V1; CXCL4L1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

2 papers

chr4:73853887 C>T

NM_002620.4

p.H69Y

c.205C>T

IL8

Exome: 0.0% (AC=397, hom=2)Genome: 0.0% (AC=49, hom=0)90 overlapping SVs

1 paper

chr4:73853395 CGCCACCCGCCAGGAG>C

NM_002620.4

p.A12_E16del0

c.34_48del15

exact variant not in gnomAD90 overlapping SVs

1 paper

chr4:73853412 TGCTGTTCTTGGCGTTGCTG>T

NM_002620.4

p.M17_L23delFs

c.51_69del19

exact variant not in gnomAD90 overlapping SVs

1 paper

chr4:73853828 C>T

NM_002620.4

p.T49I

c.146C>T

IL8

exact variant not in gnomAD90 overlapping SVs

1 paper

chr4:73853907 C>G

NM_002620.4

p.L75L

c.225C>G

IL8

Exome: 0.8% (AC=10948, hom=1569)Genome: 0.8% (AC=1065, hom=33)90 overlapping SVs

1 paper

chr4:73854066 T>A

NM_002620.4

p.L87M

c.259T>A

IL8

Exome: 0.2% (AC=2319, hom=18)Genome: 0.2% (AC=286, hom=3)90 overlapping SVs

1 paper

chr4:73854069 G>A

NM_002620.4

p.D88N

c.262G>A

IL8

exact variant not in gnomAD90 overlapping SVs

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