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.R80R

c.238A>C

Surrounding Variants

6 papers

NM_002608.4

p.R78C

c.232C>T

4 papers

NM_002608.4

p.E74*

c.220G>T

1 paper

NM_002608.4

p.L73L

c.219G>T

2 papers

NM_002608.4

p.E72K

c.214G>A

1 paper

NM_002608.4

p.G71D

c.212G>A

1 paper

NM_002608.4

p.G70R

c.208G>A

1 paper

NM_002608.4

p.S69delFs

c.205_206delGA

1 paper

NM_002608.4

p.S69F

c.206C>T

1 paper

NM_002608.4

p.S69C

c.206C>G

1 paper

NM_002608.4

p.G84Splc

c.250+22A>G

1 paper

NM_002608.4

p.R66L

c.197G>T

3 papers

NM_002608.4

p.R66H

c.197G>A