Varaico: Literature-Extracted Genetic Variants

Gene:SPOCD1
Variant:p.T291I

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
2 papers
NM_144569.7
p.T291I
c.872C>T
Surrounding Variants
1 paper
NM_144569.7
p.P300R
c.899C>G
1 paper
NM_144569.7
p.A279T
c.835G>A
1 paper
NM_144569.7
p.S310N
c.929G>A
1 paper
NM_144569.7
p.E270V
c.809A>T
1 paper
NM_144569.7
p.C329Y
c.986G>A
1 paper
NM_144569.7
p.S333L
c.998C>T
1 paper
NM_144569.7
p.L249V
c.745C>G
1 paper
NM_144569.7
p.V347fs
c.1039_1040fs
1 paper
NM_144569.7
p.V347_R348delFs
c.1040_1043del4
1 paper
NM_144569.7
p.T349A
c.1045A>G
1 paper
NM_144569.7
p.T349P
c.1045A>C
1 paper
NM_144569.7
p.R233H
c.698G>A
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