Varaico: Literature-Extracted Genetic Variants

PDGFRA

2,475 papers

RefSeq Summary

This gene encodes a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin. The identity of t...

Pfam Domains

VEGFR1-3_N_Ig-likeaa 26–131UCSCVEGFR1-3, N-terminal Ig-like domain

I-setaa 216–307UCSCImmunoglobulin I-set domain

I-setaa 319–410UCSCImmunoglobulin I-set domain

Ig_PDGFR_d4aa 415–549UCSCPlatelet-derived growth factor receptor Ig-like domain 4

PK_Tyr_Ser-Thraa 593–950UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

platelet derived growth factor receptor alpha

HGNC Alias Symbols

CD140a; PDGFR2; GAS9

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_006206.6

p.L839P

c.2516T>C

Surrounding Variants

2 papers

NM_006206.6

p.L839Q

c.2516T>A

2 papers

NM_006206.6

p.L839M

c.2515C>A

1 paper

NM_006206.6

p.L839V

c.2515C>G

4 papers

NM_006206.6

p.L839L

c.2517G>T

2 papers

NM_006206.6

p.G838G

c.2514C>T

2 papers

NM_006206.6

p.A840T

c.2518G>A

1 paper

NM_006206.6

p.A840D

c.2519C>A

1 paper

NM_006206.6

p.A840V

c.2519C>T

9 papers

NM_006206.6

p.R841_D842del0

c.2521_2526del6

1 paper

NM_006206.6

p.G838D

c.2513G>A

1 paper

NM_006206.6

p.G838V

c.2513G>T

2 papers

NM_006206.6

p.A840A

c.2520C>A