Varaico: Literature-Extracted Genetic Variants

PDGFRL

60 papers

RefSeq Summary

This gene encodes a protein with significant sequence similarity to the ligand binding domain of platelet-derived growth factor receptor beta. Mutations in this gene, or deletion of a chromosomal segm...

Pfam Domains

VEGFR-1-like_Ig-likeaa 181–264UCSCVascular endothelial growth factor receptor 1-like, Ig-like domain

Ig_3aa 271–361UCSCImmunoglobulin domain

Gene Aliases

HGNC Name

platelet derived growth factor receptor like

HGNC Alias Symbol

PRLTS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001372073.1

p.T199I

c.596C>T

Surrounding Variants

2 papers

NM_001372073.1

p.V193A

c.578T>C

1 paper

NM_001372073.1

p.E210K

c.628G>A

1 paper

NM_001372073.1

p.K214T

c.641A>C

1 paper

NM_001372073.1

p.S179R

c.537C>A

1 paper

NM_001372073.1

p.S179R

c.537C>G

1 paper

NM_001372073.1

p.S179R

c.535A>C

1 paper

NM_001372073.1

p.G220R

c.658G>A

1 paper

NM_001372073.1

p.G220R

c.658G>C

1 paper

NM_001372073.1

p.R229W

c.685C>T

1 paper

NM_001372073.1

p.A250D

c.749C>A

1 paper

NM_001372073.1

p.S254F

c.761C>T

1 paper

NM_001372073.1

p.Y264Y

c.792T>C