Varaico: Literature-Extracted Genetic Variants

Gene:SPOCD1
Variant:p.D352N

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.D352N
c.1054G>A
Surrounding Variants
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.V347_R348delFs
c.1040_1043del4
1 paper
NM_144569.7
p.Q355R
c.1064A>G
1 paper
NM_144569.7
p.V347fs
c.1039_1040fs
1 paper
NM_144569.7
p.P357L
c.1070C>T
1 paper
NM_144569.7
p.Q361*
c.1081C>T
1 paper
NM_144569.7
p.S333L
c.998C>T
1 paper
NM_144569.7
p.C329Y
c.986G>A
1 paper
NM_144569.7
p.A382D
c.1145C>A
1 paper
NM_144569.7
p.S390F
c.1169C>T
1 paper
NM_144569.7
p.R391Q
c.1172G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."