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.L465_A466insFs

c.1395_1396insA

Surrounding Variants

1 paper

NM_006206.6

p.A466T

c.1396G>A

2 papers

NM_006206.6

p.A466fs

c.1396_1397fs

3 papers

NM_006206.6

p.A466insFs

c.1396_1397insT

1 paper

NM_006206.6

p.A466delins

c.1396_1397delinsGA

1 paper

NM_006206.6

p.T463T

c.1389T>A

10 papers

NM_006206.6

p.T463S

c.1388C>G

1 paper

NM_006206.6

p.N468T

c.1403A>C

9 papers

NM_006206.6

p.N468S

c.1403A>G

10 papers

NM_006206.6

p.T463S

c.1387A>T

1 paper

NM_006206.6

p.W462*

c.1386G>A

1 paper

NM_006206.6

p.W462C

c.1386G>C

1 paper

NM_006206.6

p.W462C

c.1386G>T