Varaico: Literature-Extracted Genetic Variants

Gene:CTDSP1
Variant:p.L62delFs

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.L62delFs
c.184delC
Surrounding Variants
1 paper
NM_021198.3
p.P61T
c.181C>A
1 paper
NM_021198.3
p.V64_E65del2
c.190_194del6
2 papers
NM_021198.3
p.H57D
c.169C>G
1 paper
NM_021198.3
p.V64_E65del1
c.192_194delGGA
4 papers
NM_021198.3
p.A56T
c.166G>A
1 paper
NM_021198.3
p.G68G
c.204C>A
1 paper
NM_021198.3
p.C47S
c.140G>C
1 paper
NM_021198.3
p.C47S
c.139T>A
1 paper
NM_021198.3
p.K72_Q73Splc
c.216+6T>G
1 paper
NM_021198.3
p.C45S
c.134G>C
1 paper
NM_021198.3
p.C45S
c.133T>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."