Varaico: Literature-Extracted Genetic Variants

CPSF6

72 papers

RefSeq Summary

The protein encoded by this gene is one subunit of a cleavage factor required for 3' RNA cleavage and polyadenylation processing. The interaction of the protein with the RNA is one of the earliest ste...

Pfam Domains

RRM_1aa 83–154UCSCRNA recognition motif

RSLD_CPSF6aa 412–516UCSCCPSF6-like, RSLD domain, N-terminal region

Gene Aliases

HGNC Name

cleavage and polyadenylation specific factor 6

HGNC Alias Symbols

CFIM; HPBRII-4; HPBRII-7; CFIM68; CFIM72

Papers

RefSeq ID

Protein change

DNA change

1–12 of 89 variants

2 papers

NM_007007.3

p.V36D

c.107T>A

2 papers

NM_007007.3

p.G178E

c.533G>A

2 papers

NM_007007.3

p.R202G

c.604A>G

2 papers

NM_007007.3

p.R503Q

c.1508G>A

2 papers

NM_007007.3

p.R540Q

c.1619G>A

1 paper

NM_007007.3

p.V5insFs

c.15dupG

1 paper

NM_007007.3

p.D6H

c.16G>C

1 paper

NM_007007.3

p.E23V

c.68A>T

1 paper

NM_007007.3

p.L32W

c.95T>G

1 paper

NM_007007.3

p.D49N

c.145G>A

1 paper

NM_007007.3

p.L56I

c.166C>A

1 paper

NM_007007.3

p.T59S

c.175A>T