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.Q127H

c.381G>T

Surrounding Variants

1 paper

NM_001372073.1

p.Q127H

c.381G>C

1 paper

NM_001372073.1

p.G126S

c.376G>A

3 papers

NM_001372073.1

p.R124H

c.371G>A

1 paper

NM_001372073.1

p.Q146R

c.437A>G

1 paper

NM_001372073.1

p.D156H

c.466G>C

1 paper

NM_001372073.1

p.D156E

c.468C>A

1 paper

NM_001372073.1

p.D156E

c.468C>G

1 paper

NM_001372073.1

p.T160M

c.479C>T

1 paper

NM_001372073.1

p.T160T

c.480G>A

1 paper

NM_001372073.1

p.E169Splc

c.506-138C>G

1 paper

NM_001372073.1

p.S179R

c.535A>C

1 paper

NM_001372073.1

p.S179R

c.537C>A