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.Q646K

c.1936C>A

Surrounding Variants

1 paper

NM_002609.4

p.S643R

c.1929T>G

1 paper

NM_002609.4

p.S643R

c.1929T>A

1 paper

NM_002609.4

p.L648delFs

c.1942delG

1 paper

NM_002609.4

p.M649fs

c.1945_1946fs

1 paper

NM_002609.4

p.S643R

c.1927A>C

1 paper

NM_002609.4

p.M649I

c.1947G>T

1 paper

NM_002609.4

p.S642I

c.1925G>T

1 paper

NM_002609.4

p.M649fs

c.1945_1946fs

1 paper

NM_002609.4

p.M649I

c.1947G>C

1 paper

NM_002609.4

p.M649I

c.1947G>A

1 paper

NM_002609.4

p.S650A

c.1948T>G

1 paper

NM_002609.4

p.S642G

c.1924A>G