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

1–12 of 53 variants

5 papers

NM_001372073.1

p.I327N

c.980T>A

3 papers

NM_001372073.1

p.R124H

c.371G>A

3 papers

NM_001372073.1

p.C357F

c.1070G>T

2 papers

NM_001372073.1

p.R29C

c.85C>T

2 papers

NM_001372073.1

p.K43K

c.129G>A

2 papers

NM_001372073.1

p.V193A

c.578T>C

1 paper

NM_001372073.1

p.L9V

c.25C>G

1 paper

NM_001372073.1

p.G21D

c.62G>A

1 paper

NM_001372073.1

p.R29H

c.86G>A

1 paper

NM_001372073.1

p.P47fs

c.139_140fs

1 paper

NM_001372073.1

p.T64R

c.191C>G

1 paper

NM_001372073.1

p.P80fs

c.238_239fs