Varaico: Literature-Extracted Genetic Variants

Gene:PDGFA
Variant:p.T61fs

PDGFA

64 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 21–95UCSCPlatelet-derived growth factor, N terminal region
PDGFaa 96–179UCSCPDGF/VEGF domain

Gene Aliases

HGNC Name

platelet derived growth factor subunit A

HGNC Alias Symbols

PDGF1; PDGF-A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_033023.5
p.T61fs
c.181_182fs
Surrounding Variants
1 paper
NM_033023.5
p.T61delFs
c.181delT
1 paper
NM_033023.5
p.S58Y
c.173C>A
1 paper
NM_033023.5
p.H69H
c.207T>C
1 paper
NM_033023.5
p.E104K
c.310G>A
1 paper
NM_033023.5
p.S114F
c.341C>T
1 paper
NM_033023.5
p.A115T
c.343G>A
1 paper
NM_033023.5
p.N116S
c.347A>G
1 paper
NM_033023.5
p.C132W
c.396C>G
1 paper
NM_033023.5
p.N134S
c.401A>G
1 paper
NM_033023.5
p.V138I
c.412G>A
1 paper
NM_033023.5
p.C140R
c.418T>C
1 paper
NM_033023.5
p.Q37H
c.111G>T
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