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.P1001H

c.3002C>A

Surrounding Variants

1 paper

NM_002609.4

p.P1001S

c.3001C>T

1 paper

NM_002609.4

p.L1002R

c.3005T>G

1 paper

NM_002609.4

p.S1000Y

c.2999C>A

2 papers

NM_002609.4

p.R999*

c.2995C>T

1 paper

NM_002609.4

p.L998I

c.2992C>A

1 paper

NM_002609.4

p.S1006A

c.3016T>G

1 paper

NM_002609.4

p.S1006F

c.3017C>T

1 paper

NM_002609.4

p.G994W

c.2980G>T

5 papers

NM_002609.4

p.Y1009F

c.3026A>T

1 paper

NM_002609.4

p.T1010I

c.3029C>T

1 paper

NM_002609.4

p.R991P

c.2972G>C

7 papers

NM_002609.4

p.R991H

c.2972G>A