Varaico: Literature-Extracted Genetic Variants

PDGFB

219 papers

RefSeq Summary

This gene encodes a member of the protein family comprised of both platelet-derived growth factors (PDGF) and vascular endothelial growth factors (VEGF). The encoded preproprotein is proteolytically p...

Pfam Domains

PDGF_Naa 21–93UCSCPlatelet-derived growth factor, N terminal region

PDGFaa 97–180UCSCPDGF/VEGF domain

Gene Aliases

HGNC Name

platelet derived growth factor subunit B

HGNC Previous Symbol

SIS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_002608.4

p.T114_N115insFs

c.342_343insG

Surrounding Variants

2 papers

NM_002608.4

p.N115fs

c.343_344fs

1 paper

NM_002608.4

p.T114_N115insFs

c.342_343insC

1 paper

NM_002608.4

p.N115delFs

c.344delT

2 papers

NM_002608.4

p.R113H

c.338G>A

1 paper

NM_002608.4

p.A116T

c.346G>A

1 paper

NM_002608.4

p.N117ins2

c.349_350ins6

6 papers

NM_002608.4

p.L110P

c.329T>C

1 paper

NM_002608.4

p.S107_R109delFs

c.321_327del7

11 papers

NM_002608.4

p.L119P

c.356T>C

3 papers

NM_002608.4

p.L110F

c.328C>T

1 paper

NM_002608.4

p.L110V

c.328C>G

1 paper

NM_002608.4

p.R109C

c.325C>T