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.L986L

c.2958T>C

Surrounding Variants

23 papers

NM_002609.4

p.R987W

c.2959C>T

2 papers

NM_002609.4

p.R987Q

c.2960G>A

1 paper

NM_002609.4

p.L986F

c.2956C>T

1 paper

NM_002609.4

p.L986I

c.2956C>A

1 paper

NM_002609.4

p.I985fs

c.2953_2954fs

1 paper

NM_002609.4

p.A984D

c.2951C>A

1 paper

NM_002609.4

p.P983L

c.2948C>T

1 paper

NM_002609.4

p.P983delins

c.2947_2948delinsTT

1 paper

NM_002609.4

p.A990D

c.2969C>A

1 paper

NM_002609.4

p.R991C

c.2971C>T

1 paper

NM_002609.4

p.R991P

c.2972G>C

7 papers

NM_002609.4

p.R991H

c.2972G>A