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

1–12 of 1045 variants

57 papers

NM_002609.4

p.N666K

c.1998C>G

57 papers

NM_002609.4

p.N666K

c.1998C>A

56 papers

NM_002609.4

p.R561C

c.1681C>T

39 papers

NM_002609.4

p.W566R

c.1696T>C

37 papers

NM_002609.4

p.W566R

c.1696T>A

37 papers

NM_002609.4

p.P584R

c.1751C>G

33 papers

NM_002609.4

p.V665A

c.1994T>C

31 papers

NM_002609.4

p.N666H

c.1996A>C

30 papers

NM_002609.4

p.N666S

c.1997A>G

28 papers

NM_002609.4

p.L658P

c.1973T>C

27 papers

NM_002609.4

p.P660T

c.1978C>A

23 papers

NM_002609.4

p.R987W

c.2959C>T