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.E126E

c.378G>A

Surrounding Variants

1 paper

NM_002608.4

p.V125L

c.373G>C

1 paper

NM_002608.4

p.Q128fs

c.382_383fs

1 paper

NM_002608.4

p.Q128delFs

c.384delC

1 paper

NM_002608.4

p.R129H

c.386G>A

4 papers

NM_002608.4

p.P122L

c.365C>T

1 paper

NM_002608.4

p.W121_P122delins

c.363_365delinsTCT

1 paper

NM_002608.4

p.P122T

c.364C>A

2 papers

NM_002608.4

p.G132R

c.394G>C

1 paper

NM_002608.4

p.G132S

c.394G>A

11 papers

NM_002608.4

p.L119P

c.356T>C

2 papers

NM_002608.4

p.N136S

c.407A>G

1 paper

NM_002608.4

p.N117ins2

c.349_350ins6