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

1 paper

NM_006206.6

p.G79S

c.235G>A

Surrounding Variants

1 paper

NM_006206.6

p.S78R

c.234C>A

1 paper

NM_006206.6

p.S78R

c.234C>G

23 papers

NM_006206.6

p.G79D

c.236G>A

1 paper

NM_006206.6

p.G79G

c.237C>A

1 paper

NM_006206.6

p.S78N

c.233G>A

1 paper

NM_006206.6

p.S78R

c.232A>C

1 paper

NM_006206.6

p.L80F

c.238C>T

1 paper

NM_006206.6

p.N77N

c.231C>T

1 paper

NM_006206.6

p.F81insFs

c.241_242insCC

1 paper

NM_006206.6

p.F81ins2

c.241_242ins6

8 papers

NM_006206.6

p.N76N

c.228C>T

1 paper

NM_006206.6

p.N76S

c.227A>G