Varaico: Literature-Extracted Genetic Variants

Gene:CTDSP1

CTDSP1

41 papers

RefSeq Summary

This gene encodes a member of the small C-terminal domain phosphatase (SCP) family of nuclear phosphatases. These proteins play a role in transcriptional regulation through specific dephosphorylation ...

Pfam Domains

NIFaa 91–251UCSCNLI interacting factor-like phosphatase

Gene Aliases

HGNC Name

CTD small phosphatase 1

HGNC Alias Symbols

NLIIF; SCP1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 47 variants
4 papers
NM_021198.3
p.A56T
c.166G>A
2 papers
NM_021198.3
p.H57D
c.169C>G
2 papers
NM_021198.3
p.D96N
c.286G>A
1 paper
NM_021198.3
p.I7F
c.19A>T
1 paper
NM_021198.3
p.E13K
c.37G>A
1 paper
NM_021198.3
p.K22delFs
c.64_65delAA
1 paper
NM_021198.3
p.G23Splc
c.68-27C>T
1 paper
NM_021198.3
p.Q31*
c.91C>T
1 paper
NM_021198.3
p.Q31R
c.92A>G
1 paper
NM_021198.3
p.G37A
c.110G>C
1 paper
NM_021198.3
p.C44S
c.130T>A
1 paper
NM_021198.3
p.C44S
c.131G>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."