Varaico: Literature-Extracted Genetic Variants

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.E110*

c.328G>T

Surrounding Variants

1 paper

NM_006831.3

p.E112K

c.334G>A

1 paper

NM_006831.3

p.R104Q

c.311G>A

1 paper

NM_006831.3

p.R104W

c.310C>T

1 paper

NM_006831.3

p.G121_D124delFs

c.361_370del10

1 paper

NM_006831.3

p.P122A

c.364C>G

1 paper

NM_006831.3

p.S128A

c.382T>G

1 paper

NM_006831.3

p.S128Y

c.383C>A

1 paper

NM_006831.3

p.C131W

c.393T>G

1 paper

NM_006831.3

p.A138T

c.412G>A

1 paper

NM_006831.3

p.E80*

c.238G>T

32 papers

NM_006831.3

p.R140H

c.419G>A

1 paper

NM_006831.3

p.S72C

c.215C>G