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

5 papers

NM_002608.4

p.R108W

c.322C>T

Surrounding Variants

1 paper

NM_002608.4

p.R108Q

c.323G>A

1 paper

NM_002608.4

p.S107A

c.319T>G

1 paper

NM_002608.4

p.R109C

c.325C>T

1 paper

NM_002608.4

p.I106I

c.318C>T

3 papers

NM_002608.4

p.L110F

c.328C>T

1 paper

NM_002608.4

p.L110V

c.328C>G

6 papers

NM_002608.4

p.L110P

c.329T>C

1 paper

NM_002608.4

p.S107_R109delFs

c.321_327del7

1 paper

NM_002608.4

p.F104fs

c.310_311fs

2 papers

NM_002608.4

p.R113H

c.338G>A

1 paper

NM_002608.4

p.E102K

c.304G>A

2 papers

NM_002608.4

p.T114_N115insFs

c.342_343insG