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.S192N

c.575G>A

Surrounding Variants

1 paper

NM_007007.3

p.R194C

c.580C>T

1 paper

NM_007007.3

p.Q199Q

c.597A>G

1 paper

NM_007007.3

p.E183fs

c.547_548fs

2 papers

NM_007007.3

p.R202G

c.604A>G

1 paper

NM_007007.3

p.G182delFs

c.544delG

1 paper

NM_007007.3

p.G205S

c.613G>A

1 paper

NM_007007.3

p.Q179P

c.536A>C

2 papers

NM_007007.3

p.G178E

c.533G>A

1 paper

NM_007007.3

p.R206L

c.617G>T

1 paper

NM_007007.3

p.F207S

c.620T>C

1 paper

NM_007007.3

p.A232Splc

c.694+206C>A

1 paper

NM_007007.3

p.G245D

c.734G>A