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

1 paper

NM_002608.4

p.V213insFs

c.638_639ins4

Surrounding Variants

5 papers

NM_002608.4

p.T212M

c.635C>T

1 paper

NM_002608.4

p.R211insFs

c.632_633insT

1 paper

NM_002608.4

p.R216C

c.646C>T

1 paper

NM_002608.4

p.R216L

c.647G>T

1 paper

NM_002608.4

p.R216H

c.647G>A

1 paper

NM_002608.4

p.R217W

c.649C>T

1 paper

NM_002608.4

p.R217Q

c.650G>A

1 paper

NM_002608.4

p.Q205_T206del2

c.613_617del6

1 paper

NM_002608.4

p.P219P

c.657C>A

1 paper

NM_002608.4

p.K220insFs

c.659dupA

1 paper

NM_002608.4

p.K222fs

c.664_665fs

1 paper

NM_002608.4

p.P204S

c.610C>T