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.M578V

c.1732A>G

Surrounding Variants

3 papers

NM_006206.6

p.P577P

c.1731G>A

1 paper

NM_006206.6

p.M578_R585ins2

c.1732_1755dup24

2 papers

NM_006206.6

p.M578K

c.1733T>A

1 paper

NM_006206.6

p.M578R

c.1733T>G

4 papers

NM_006206.6

p.P577R

c.1730C>G

5 papers

NM_006206.6

p.P577L

c.1730C>T

2 papers

NM_006206.6

p.P577T

c.1729C>A

1 paper

NM_006206.6

p.Q579_G592ins4

c.1736_1774dup39

7 papers

NM_006206.6

p.P577S

c.1729C>T

2 papers

NM_006206.6

p.Q579*

c.1735C>T

1 paper

NM_006206.6

p.Q579R

c.1736A>G

1 paper

NM_006206.6

p.Q579L

c.1736A>T