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.G248D

c.743G>A

Surrounding Variants

1 paper

NM_007007.3

p.G245D

c.734G>A

1 paper

NM_007007.3

p.G251D

c.752G>A

1 paper

NM_007007.3

p.P261S

c.781C>T

1 paper

NM_007007.3

p.R269Q

c.806G>A

1 paper

NM_007007.3

p.P283S

c.847C>T

1 paper

NM_007007.3

p.G285E

c.854G>A

1 paper

NM_007007.3

p.P317A

c.949C>G

1 paper

NM_007007.3

p.R326H

c.977G>A

1 paper

NM_007007.3

p.P328L

c.983C>T

1 paper

NM_007007.3

p.P352Q

c.1055C>A

1 paper

NM_007007.3

p.P359S

c.1075C>T

1 paper

NM_007007.3

p.P364S

c.1090C>T