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.Q140*

c.418C>T

Surrounding Variants

1 paper

NM_002608.4

p.C141R

c.421T>C

2 papers

NM_002608.4

p.R142H

c.425G>A

1 paper

NM_002608.4

p.R137S

c.409C>A

2 papers

NM_002608.4

p.N136S

c.407A>G

11 papers

NM_002608.4

p.Q145*

c.433C>T

10 papers

NM_002608.4

p.Q147*

c.439C>T

2 papers

NM_002608.4

p.G132R

c.394G>C

1 paper

NM_002608.4

p.G132S

c.394G>A

12 papers

NM_002608.4

p.R149*

c.445C>T

1 paper

NM_002608.4

p.R149Q

c.446G>A

1 paper

NM_002608.4

p.R129H

c.386G>A

1 paper

NM_002608.4

p.Q128delFs

c.384delC