Varaico: Literature-Extracted Genetic Variants

Gene:SPDEF
Variant:p.A49T

SPDEF

45 papers

RefSeq Summary

The protein encoded by this gene belongs to the ETS family of transcription factors. It is highly expressed in the prostate epithelial cells, and functions as an androgen-independent transactivator of...

Pfam Domains

SAM_PNTaa 131–213UCSCSterile alpha motif (SAM)/Pointed domain
Etsaa 248–332UCSCEts-domain

Gene Aliases

HGNC Name

SAM pointed domain containing ETS transcription factor

HGNC Alias Symbols

PDEF; bA375E1.3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012391.3
p.A49T
c.145G>A
Surrounding Variants
1 paper
NM_012391.3
p.P47fs
c.139_140fs
1 paper
NM_012391.3
p.W43R
c.127T>A
1 paper
NM_012391.3
p.A57T
c.169G>A
1 paper
NM_012391.3
p.V36A
c.107T>C
1 paper
NM_012391.3
p.G34V
c.101G>T
1 paper
NM_012391.3
p.E69K
c.205G>A
1 paper
NM_012391.3
p.S72R
c.214A>C
1 paper
NM_012391.3
p.S72R
c.216C>G
1 paper
NM_012391.3
p.S72R
c.216C>A
1 paper
NM_012391.3
p.R25W
c.73C>T
1 paper
NM_012391.3
p.D21fs
c.61_62fs
1 paper
NM_012391.3
p.P20S
c.58C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."