Varaico: Literature-Extracted Genetic Variants

Gene:SDE2

SDE2

36 papers

Pfam Domains

Sde2_N_Ubi_vertaa 1–75UCSCVertebrate Splicing regulator sde2, N-terminal ubiquitin domain
SDE2aa 76–173UCSCSplicing regulator SDE2, SDE2 domain
SDE2_2Caa 358–444UCSCReplication stress response SDE2 C-terminal

Gene Aliases

HGNC Name

spliceosome associated SDE2

HGNC Previous Symbol

C1orf55

Papers
RefSeq ID
Protein change
DNA change
1–12 of 42 variants
2 papers
NM_152608.4
p.M1T
c.2T>C
2 papers
NM_152608.4
p.E131G
c.392A>G
1 paper
NM_152608.4
p.S24L
c.71C>T
1 paper
NM_152608.4
p.R26Q
c.77G>A
1 paper
NM_152608.4
p.S59G
c.175A>G
1 paper
NM_152608.4
p.V62G
c.185T>G
1 paper
NM_152608.4
p.G76S
c.226G>A
1 paper
NM_152608.4
p.G76A
c.227G>C
1 paper
NM_152608.4
p.G77A
c.230G>C
1 paper
NM_152608.4
p.G82E
c.245G>A
1 paper
NM_152608.4
p.A90V
c.269C>T
1 paper
NM_152608.4
p.K94Q
c.280A>C
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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."