Varaico: Literature-Extracted Genetic Variants

Gene:PDGFD
Variant:p.S43G

PDGFD

67 papers

RefSeq Summary

The protein encoded by this gene is a member of the platelet-derived growth factor family. The four members of this family are mitogenic factors for cells of mesenchymal origin and are characterized b...

Pfam Domains

CUBaa 53–167UCSCCUB domain
CUBaa 53–167UCSCCUB domain
PDGFaa 272–362UCSCPDGF/VEGF domain

Gene Aliases

HGNC Name

platelet derived growth factor D

HGNC Alias Symbols

SCDGF-B; MSTP036; IEGF

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_025208.5
p.S43G
c.127A>G
Surrounding Variants
1 paper
NM_025208.5
p.Q57*
c.169C>T
1 paper
NM_033135.4
p.G56S
c.166G>A
2 papers
NM_025208.5
p.Y63Y
c.189C>T
1 paper
NM_025208.5
p.Y63*
c.189C>G
1 paper
NM_025208.5
p.Y63*
c.189C>A
1 paper
NM_025208.5
p.S66ins5
c.196_197ins15
1 paper
NM_025208.5
p.P70Q
c.209C>A
1 paper
NM_025208.5
p.R75W
c.223A>T
1 paper
NM_025208.5
p.L78H
c.233T>A
1 paper
NM_025208.5
p.H84Y
c.250C>T
2 papers
NM_033135.4
p.R84W
c.250C>T
NM_025208.5
p.R90W
c.268C>T
1 paper
NM_025208.5
p.L93L
c.277C>T
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