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.E96K

c.286G>A

Surrounding Variants

1 paper

NM_002608.4

p.E96delFs

c.287delT

1 paper

NM_002608.4

p.C97R

c.289T>C

1 paper

NM_002608.4

p.A95P

c.283G>C

3 papers

NM_002608.4

p.A95T

c.283G>A

1 paper

NM_002608.4

p.C97Y

c.290G>A

1 paper

NM_002608.4

p.A92S

c.274G>T

2 papers

NM_002608.4

p.R100C

c.298C>T

1 paper

NM_002608.4

p.T101A

c.301A>G

1 paper

NM_002608.4

p.E90*

c.268G>T

1 paper

NM_002608.4

p.E102K

c.304G>A

1 paper

NM_002608.4

p.A89T

c.265G>A

1 paper

NM_002608.4

p.F104fs

c.310_311fs