Varaico: Literature-Extracted Genetic Variants

Gene:SPOCD1
Variant:p.S903L

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.S903L
c.2708C>T
Surrounding Variants
1 paper
NM_144569.7
p.P921L
c.2762C>T
1 paper
NM_144569.7
p.Q895_A896Splc
c.2686-96T>C
1 paper
NM_144569.7
p.R931T
c.2792G>C
1 paper
NM_144569.7
p.Q941delFs
c.2823delC
1 paper
NM_144569.7
p.Q954R
c.2861A>G
1 paper
NM_144569.7
p.M966I
c.2898G>T
1 paper
NM_144569.7
p.M966I
c.2898G>C
1 paper
NM_144569.7
p.M966I
c.2898G>A
1 paper
NM_144569.7
p.P972S
c.2914C>T
1 paper
NM_144569.7
p.R982C
c.2944C>T
2 papers
NM_144569.7
p.R982H
c.2945G>A
1 paper
NM_144569.7
p.G988C
c.2962G>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."