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

3 papers

NM_006206.6

p.T632M

c.1895C>T

Surrounding Variants

1 paper

NM_006206.6

p.T632K

c.1895C>A

4 papers

NM_006206.6

p.A633T

c.1897G>A

1 paper

NM_006206.6

p.A633P

c.1897G>C

2 papers

NM_006206.6

p.A633V

c.1898C>T

1 paper

NM_006206.6

p.R634*

c.1900A>T

1 paper

NM_006206.6

p.R634S

c.1902A>C

1 paper

NM_006206.6

p.R634S

c.1902A>T

1 paper

NM_006206.6

p.S635A

c.1903T>G

1 paper

NM_006206.6

p.S635Y

c.1904C>A

1 paper

NM_006206.6

p.S636C

c.1906A>T

1 paper

NM_006206.6

p.S636T

c.1907G>C

1 paper

NM_006206.6

p.Q639*

c.1915C>T