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

1–12 of 187 variants

12 papers

NM_002608.4

p.R149*

c.445C>T

11 papers

NM_002608.4

p.L119P

c.356T>C

11 papers

NM_002608.4

p.Q145*

c.433C>T

10 papers

NM_002608.4

p.Q147*

c.439C>T

9 papers

NM_002608.4

p.M1I

c.3G>A

9 papers

NM_002608.4

p.L9R

c.26T>G

9 papers

NM_002608.4

p.*242Y

c.726G>C

6 papers

NM_002608.4

p.R78C

c.232C>T

6 papers

NM_002608.4

p.L110P

c.329T>C

5 papers

NM_002608.4

p.R108W

c.322C>T

5 papers

NM_002608.4

p.T212M

c.635C>T

4 papers

NM_002608.4

p.M1I

c.3G>C