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

Selected Variant

1 paper

NM_007007.3

p.E541V

c.1622A>T

Surrounding Variants

1 paper

NM_007007.3

p.E541K

c.1621G>A

2 papers

NM_007007.3

p.R540Q

c.1619G>A

1 paper

NM_007007.3

p.R544Q

c.1631G>A

1 paper

NM_007007.3

p.D537E

c.1611C>G

1 paper

NM_007007.3

p.D535V

c.1604A>T

1 paper

NM_007007.3

p.R534C

c.1600C>T

1 paper

NM_007007.3

p.D533N

c.1597G>A

1 paper

NM_007007.3

p.R551H

c.1652G>A

1 paper

NM_007007.3

p.D519N

c.1555G>A

1 paper

NM_007007.3

p.D518N

c.1552G>A

1 paper

NM_007007.3

p.D515N

c.1543G>A

1 paper

NM_007007.3

p.S511A

c.1531T>G