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.C677S

c.2030G>C

Surrounding Variants

1 paper

NM_006206.6

p.C677F

c.2030G>T

1 paper

NM_006206.6

p.F678delFs

c.2032_2033delTT

1 paper

NM_006206.6

p.C677S

c.2029T>A

1 paper

NM_006206.6

p.C677R

c.2029T>C

1 paper

NM_006206.6

p.Y676*

c.2028T>A

2 papers

NM_006206.6

p.F678L

c.2032T>C

1 paper

NM_006206.6

p.Y676*

c.2028T>G

1 paper

NM_006206.6

p.F678V

c.2032T>G

1 paper

NM_006206.6

p.F678fs

c.2032_2033fs

2 papers

NM_006206.6

p.Y676C

c.2027A>G

2 papers

NM_006206.6

p.F678L

c.2034C>A

2 papers

NM_006206.6

p.F678L

c.2034C>G