Varaico: Literature-Extracted Genetic Variants

Gene:CTDSP1
Variant:p.K72_Q73Splc

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
Selected Variant
1 paper
NM_021198.3
p.K72_Q73Splc
c.217-24C>T
Surrounding Variants
1 paper
NM_021198.3
p.K72_Q73Splc
c.217-24C>A
1 paper
NM_021198.3
p.K72_Q73Splc
c.217-8C>G
2 papers
NM_021198.3
p.D96N
c.286G>A
1 paper
NM_021198.3
p.D96A
c.287A>C
1 paper
NM_021198.3
p.D98N
c.292G>A
1 paper
NM_021198.3
p.D98A
c.293A>C
1 paper
NM_021198.3
p.E99Q
c.295G>C
1 paper
NM_021198.3
p.E99A
c.296A>C
1 paper
NM_021198.3
p.L101L
c.303G>A
1 paper
NM_021198.3
p.F114I
c.340T>A
1 paper
NM_021198.3
p.K72_Q73Splc
c.216+25C>T
1 paper
NM_021198.3
p.K72_Q73Splc
c.216+6T>G
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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."