Varaico: Literature-Extracted Genetic Variants

Gene:CLP1
Variant:p.T50A

CLP1

97 papers

RefSeq Summary

This gene encodes a member of the Clp1 family. The encoded protein is a multifunctional kinase which is a component of the tRNA splicing endonuclease complex and a component of the pre-mRNA cleavage c...

Pfam Domains

CLP1_Naa 16–107UCSCN-terminal beta-sandwich domain of polyadenylation factor
CLP1_Paa 121–307UCSCmRNA cleavage and polyadenylation factor CLP1 P-loop
Clp1aa 312–423UCSCPre-mRNA cleavage complex II protein Clp1

Gene Aliases

HGNC Name

cleavage factor polyribonucleotide kinase subunit 1

HGNC Alias Symbols

HEAB; hClp1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006831.3
p.T50A
c.148A>G
Surrounding Variants
1 paper
NM_006831.3
p.A59D
c.176C>A
1 paper
NM_006831.3
p.A61ins1
c.181_182insGAC
1 paper
NM_006831.3
p.L38delFs
c.112delT
1 paper
NM_006831.3
p.T67N
c.200C>A
1 paper
NM_006831.3
p.W68L
c.203G>T
1 paper
NM_006831.3
p.S72C
c.215C>G
1 paper
NM_006831.3
p.R24delFs
c.72delC
1 paper
NM_006831.3
p.E80*
c.238G>T
1 paper
NM_006831.3
p.L17Q
c.50T>A
1 paper
NM_006831.3
p.T13S
c.37A>T
1 paper
NM_006831.3
p.T12delFs
c.35delC
1 paper
NM_006831.3
p.K9R
c.26A>G
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