Varaico: Literature-Extracted Genetic Variants

PDGFRB

1,423 papers

RefSeq Summary

The protein encoded by this gene is 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....

Pfam Domains

igaa 40–113UCSCImmunoglobulin domain

Ig_3aa 213–294UCSCImmunoglobulin domain

I-setaa 327–413UCSCImmunoglobulin I-set domain

Ig_PDGFR_d4aa 417–556UCSCPlatelet-derived growth factor receptor Ig-like domain 4

PK_Tyr_Ser-Thraa 600–958UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

platelet derived growth factor receptor beta

HGNC Previous Symbol

PDGFR

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002609.4

p.P69L

c.206C>T

Surrounding Variants

1 paper

NM_002609.4

p.P70fs

c.208_209fs

1 paper

NM_002609.4

p.E68A

c.203A>C

1 paper

NM_002609.4

p.E68K

c.202G>A

1 paper

NM_002609.4

p.P70delFs

c.209delG

1 paper

NM_002609.4

p.Q71_E72insFs

c.213_214insT

1 paper

NM_002609.4

p.S66C

c.197C>G

1 paper

NM_002609.4

p.E72D

c.216A>T

1 paper

NM_002609.4

p.E72D

c.216A>C

1 paper

NM_001355016.2

p.M1R

c.2T>G

1 paper

NM_002609.4

p.A74S

c.220G>T

1 paper

NM_002609.4

p.A74insFs

c.220_221insC

1 paper

NM_002609.4

p.A74T

c.220G>A