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

2 papers

NM_007007.3

p.R503Q

c.1508G>A

Surrounding Variants

1 paper

NM_007007.3

p.R503*

c.1507C>T

1 paper

NM_007007.3

p.E504K

c.1510G>A

1 paper

NM_007007.3

p.K510E

c.1528A>G

1 paper

NM_007007.3

p.S511A

c.1531T>G

1 paper

NM_007007.3

p.R493R

c.1479A>G

1 paper

NM_007007.3

p.E492fs

c.1474_1475fs

1 paper

NM_007007.3

p.D515N

c.1543G>A

1 paper

NM_007007.3

p.E492delFs

c.1474delG

1 paper

NM_007007.3

p.D518N

c.1552G>A

1 paper

NM_007007.3

p.D519N

c.1555G>A

1 paper

NM_007007.3

p.D533N

c.1597G>A

1 paper

NM_007007.3

p.R534C

c.1600C>T