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

3 papers

NM_002609.4

p.V568E

c.1703T>A

Surrounding Variants

1 paper

NM_002609.4

p.V568A

c.1703T>C

1 paper

NM_002609.4

p.W566_V568del0

c.1697_1702del6

1 paper

NM_002609.4

p.V568L

c.1702G>T

2 papers

NM_002609.4

p.I569V

c.1705A>G

2 papers

NM_002609.4

p.I569N

c.1706T>A

3 papers

NM_002609.4

p.W566_I569del0

c.1698_1706del9

1 paper

NM_002609.4

p.R565_I569del0

c.1695_1706del12

1 paper

NM_002609.4

p.I564_I569del0

c.1692_1706del15

1 paper

NM_002609.4

p.P560_I569delins

c.1680_1707delinsC

13 papers

NM_002609.4

p.K567E

c.1699A>G

1 paper

NM_002609.4

p.K567Q

c.1699A>C

2 papers

NM_002609.4

p.W566*

c.1698G>A