Varaico: Literature-Extracted Genetic Variants

Gene:SPOCD1

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
1–12 of 114 variants
9 papers
NM_144569.7
p.R436W
c.1306C>T
6 papers
NM_144569.7
p.T109A
c.325A>G
2 papers
NM_144569.7
p.G50R
c.148G>C
2 papers
NM_144569.7
p.G50R
c.148G>A
2 papers
NM_144569.7
p.T291I
c.872C>T
2 papers
NM_144569.7
p.S514L
c.1541C>T
2 papers
NM_144569.7
p.R520K
c.1559G>A
2 papers
NM_144569.7
p.R671W
c.2011C>T
2 papers
NM_144569.7
p.P727L
c.2180C>T
2 papers
NM_144569.7
p.A773T
c.2317G>A
2 papers
NM_144569.7
p.R982H
c.2945G>A
1 paper
NM_144569.7
p.Q3*
c.7C>T
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."