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.A7T

c.19G>A

Surrounding Variants

1 paper

NM_006206.6

p.A7V

c.20C>T

3 papers

NM_006206.6

p.P6L

c.17C>T

1 paper

NM_006206.6

p.F8insFs

c.23dupT

1 paper

NM_006206.6

p.F8delFs

c.23delT

1 paper

NM_006206.6

p.P6T

c.16C>A

3 papers

NM_006206.6

p.P6S

c.16C>T

1 paper

NM_006206.6

p.P6fs

c.16_17fs

1 paper

NM_006206.6

p.H5insFs

c.14_15insAC

1 paper

NM_006206.6

p.S4F

c.11C>T

1 paper

NM_006206.6

p.V10insFs

c.28_29insA

1 paper

NM_006206.6

p.V10G

c.29T>G

1 paper

NM_006206.6

p.V10V

c.30C>A