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.D68Y

c.202G>T

Surrounding Variants

1 paper

NM_006206.6

p.D68N

c.202G>A

1 paper

NM_006206.6

p.S67S

c.201C>T

1 paper

NM_006206.6

p.S66R

c.198C>A

1 paper

NM_006206.6

p.S66R

c.198C>G

1 paper

NM_006206.6

p.V69A

c.206T>C

1 paper

NM_006206.6

p.S66R

c.196A>C

1 paper

NM_006206.6

p.E70Q

c.208G>C

1 paper

NM_006206.6

p.E65G

c.194A>G

1 paper

NM_006206.6

p.E65Q

c.193G>C

1 paper

NM_006206.6

p.E64V

c.191A>T

1 paper

NM_006206.6

p.I71_R72insFs

c.213_214insT

2 papers

NM_006206.6

p.I71M

c.213C>G