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.D568Y

c.1702G>T

Surrounding Variants

3 papers

NM_006206.6

p.D568N

c.1702G>A

1 paper

NM_006206.6

p.D568fs

c.1702_1703fs

2 papers

NM_006206.6

p.G569_V575del0

c.1706_1723del18

52 papers

NM_006206.6

p.P567P

c.1701A>G

1 paper

NM_006206.6

p.D568_Y574del7

c.1702_1721del21

1 paper

NM_006206.6

p.D568_D576del0

c.1704_1727del24

1 paper

NM_006206.6

p.P567Q

c.1700C>A

4 papers

NM_006206.6

p.P567L

c.1700C>T

2 papers

NM_006206.6

p.G569_D576del0

c.1705_1728del24

1 paper

NM_006206.6

p.P567fs

c.1699_1700fs

3 papers

NM_006206.6

p.P567S

c.1699C>T

2 papers

NM_006206.6

p.P567fs

c.1699_1700fs