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.H228P

c.683A>C

Surrounding Variants

1 paper

NM_002608.4

p.H228Q

c.684C>G

1 paper

NM_002608.4

p.H228Q

c.684C>A

1 paper

NM_002608.4

p.H228N

c.682C>A

1 paper

NM_002608.4

p.T229M

c.686C>T

1 paper

NM_002608.4

p.T229K

c.686C>A

1 paper

NM_002608.4

p.H230Q

c.690T>G

1 paper

NM_002608.4

p.D231E

c.693C>G

2 papers

NM_002608.4

p.D231E

c.693C>A

1 paper

NM_002608.4

p.R224_K225delins

c.672_673delinsTT

1 paper

NM_002608.4

p.R224Q

c.671G>A

2 papers

NM_002608.4

p.R224W

c.670C>T

1 paper

NM_002608.4

p.T233S

c.697A>T