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.Y1021F

c.3062A>T

Surrounding Variants

1 paper

NM_002609.4

p.D1020H

c.3058G>C

1 paper

NM_002609.4

p.D1020N

c.3058G>A

1 paper

NM_002609.4

p.I1022I

c.3066C>T

1 paper

NM_002609.4

p.L1025P

c.3074T>C

1 paper

NM_002609.4

p.E1016D

c.3048G>T

1 paper

NM_002609.4

p.E1016D

c.3048G>C

1 paper

NM_002609.4

p.P1026P

c.3078T>G

1 paper

NM_002609.4

p.N1015N

c.3045T>C

1 paper

NM_002609.4

p.D1027Y

c.3079G>T

1 paper

NM_002609.4

p.N1015S

c.3044A>G

1 paper

NM_002609.4

p.N1015Y

c.3043A>T

1 paper

NM_002609.4

p.K1029ins1

c.3086_3087insTGA