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

4 papers

NM_006206.6

p.V484M

c.1450G>A

Surrounding Variants

1 paper

NM_006206.6

p.V484L

c.1450G>C

1 paper

NM_006206.6

p.V484L

c.1450G>T

2 papers

NM_006206.6

p.V484_V488del0

c.1451_1462del12

1 paper

NM_006206.6

p.T483fs

c.1447_1448fs

1 paper

NM_006206.6

p.E485fs

c.1453_1454fs

1 paper

NM_006206.6

p.S482N

c.1445G>A

3 papers

NM_006206.6

p.G486C

c.1456G>T

3 papers

NM_006206.6

p.R481G

c.1441A>G

2 papers

NM_006206.6

p.R487C

c.1459C>T

4 papers

NM_006206.6

p.R487H

c.1460G>A

4 papers

NM_006206.6

p.R487L

c.1460G>T

1 paper

NM_006206.6

p.R487delFs

c.1461delT