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

9 papers

NM_002608.4

p.M1I

c.3G>A

Surrounding Variants

2 papers

NM_002608.4

p.M1I

c.3G>T

1 paper

NM_002608.4

p.M1_N2insFs

c.3_4insA

4 papers

NM_002608.4

p.M1I

c.3G>C

1 paper

NM_002608.4

p.M1R

c.2T>G

1 paper

NM_002608.4

p.M1Fs

c.2delinsCTGFs

1 paper

NM_002608.4

p.M1T

c.2T>C

1 paper

NM_002608.4

p.N2Y

c.4A>T

3 papers

NM_002608.4

p.M1V

c.1A>G

1 paper

NM_002608.4

p.R3C

c.7C>T

1 paper

NM_002608.4

p.R3H

c.8G>A

1 paper

NM_002608.4

p.M1_A6del0

c.1_18del18

1 paper

NM_002608.4

p.F8insFs

c.23dupT