Varaico: Literature-Extracted Genetic Variants

Gene:SPOCD1
Variant:p.E502Q

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.E502Q
c.1504G>C
Surrounding Variants
2 papers
NM_144569.7
p.S514L
c.1541C>T
1 paper
NM_144569.7
p.R518delFs
c.1552delT
1 paper
NM_144569.7
p.R518fs
c.1552_1553fs
2 papers
NM_144569.7
p.R520K
c.1559G>A
1 paper
NM_144569.7
p.G529V
c.1586G>T
1 paper
NM_144569.7
p.Q534_V535Splc
c.1603-2A>G
1 paper
NM_144569.7
p.D547Y
c.1639G>T
1 paper
NM_144569.7
p.S570S
c.1710G>A
1 paper
NM_144569.7
p.P602P
c.1806A>G
1 paper
NM_144569.7
p.G607A
c.1820G>C
1 paper
NM_144569.7
p.L461_E462Splc
c.1384-3A>G
1 paper
NM_144569.7
p.L624F
c.1870C>T
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