Varaico: Literature-Extracted Genetic Variants

Gene:SPOCD1
Variant:p.T840M

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.T840M
c.2519C>T
Surrounding Variants
1 paper
NM_144569.7
p.D844E
c.2532C>G
1 paper
NM_144569.7
p.D844E
c.2532C>A
1 paper
NM_144569.7
p.A809T
c.2425G>A
1 paper
NM_144569.7
p.E807K
c.2419G>A
1 paper
NM_144569.7
p.F806F
c.2418C>T
1 paper
NM_144569.7
p.S849C
c.2546C>G
2 papers
NM_144569.7
p.A773T
c.2317G>A
1 paper
NM_144569.7
p.I772I
c.2316C>T
1 paper
NM_144569.7
p.Q895_A896Splc
c.2686-96T>C
1 paper
NM_144569.7
p.S903L
c.2708C>T
1 paper
NM_144569.7
p.P921L
c.2762C>T
1 paper
NM_144569.7
p.R931T
c.2792G>C
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