Varaico: Literature-Extracted Genetic Variants

Gene:SPOCD1
Variant:p.A45G

SPOCD1

94 papers

RefSeq Summary

This gene encodes a protein that belongs to the TFIIS family of transcription factors. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013].

Pfam Domains

TFIIS_Maa 606–720UCSCTranscription factor S-II (TFIIS), central domain
SPOCaa 857–1017UCSCSPOC domain

Gene Aliases

HGNC Name

SPOC domain containing 1

HGNC Alias Symbols

FLJ25348; PPP1R146

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_144569.7
p.A45G
c.134C>G
Surrounding Variants
1 paper
NM_144569.7
p.A45P
c.133G>C
1 paper
NM_144569.7
p.P43L
c.128C>T
2 papers
NM_144569.7
p.G50R
c.148G>C
2 papers
NM_144569.7
p.G50R
c.148G>A
1 paper
NM_144569.7
p.G54C
c.160G>T
1 paper
NM_144569.7
p.R66*
c.196C>T
1 paper
NM_144569.7
p.S70S
c.210C>T
1 paper
NM_144569.7
p.R71W
c.211C>T
1 paper
NM_144569.7
p.S11delFs
c.31delT
1 paper
NM_144569.7
p.P80fs
c.238_239fs
1 paper
NM_144569.7
p.Q3*
c.7C>T
1 paper
NM_144569.7
p.S94*
c.281C>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."