Varaico: Literature-Extracted Genetic Variants

Gene:SPOCD1
Variant:p.T109A

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
6 papers
NM_144569.7
p.T109A
c.325A>G
Surrounding Variants
1 paper
NM_144569.7
p.P105S
c.313C>T
1 paper
NM_144569.7
p.R118W
c.352A>T
1 paper
NM_144569.7
p.S94*
c.281C>A
1 paper
NM_144569.7
p.L127*
c.380T>G
1 paper
NM_144569.7
p.L127*
c.380T>A
1 paper
NM_144569.7
p.P80fs
c.238_239fs
1 paper
NM_144569.7
p.R71W
c.211C>T
1 paper
NM_144569.7
p.S70S
c.210C>T
1 paper
NM_144569.7
p.R66*
c.196C>T
1 paper
NM_144569.7
p.A154V
c.461C>T
1 paper
NM_144569.7
p.E157D
c.471G>T
1 paper
NM_144569.7
p.E157D
c.471G>C
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