Varaico: Literature-Extracted Genetic Variants

Gene:SPOCD1
Variant:p.V203M

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.V203M
c.607G>A
Surrounding Variants
1 paper
NM_144569.7
p.R204M
c.611G>T
1 paper
NM_144569.7
p.P190fs
c.568_569fs
1 paper
NM_144569.7
p.P189L
c.566C>T
1 paper
NM_144569.7
p.E217*
c.649G>T
1 paper
NM_144569.7
p.E219E
c.657G>A
1 paper
NM_144569.7
p.Q230L
c.689A>T
1 paper
NM_144569.7
p.R233H
c.698G>A
1 paper
NM_144569.7
p.V159G
c.476T>G
1 paper
NM_144569.7
p.E157D
c.471G>T
1 paper
NM_144569.7
p.E157D
c.471G>C
1 paper
NM_144569.7
p.L249V
c.745C>G
1 paper
NM_144569.7
p.A154V
c.461C>T
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