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.P352Q

c.1055C>A

Surrounding Variants

1 paper

NM_007007.3

p.P359S

c.1075C>T

1 paper

NM_007007.3

p.P364S

c.1090C>T

1 paper

NM_007007.3

p.P365L

c.1094C>T

1 paper

NM_007007.3

p.P328L

c.983C>T

1 paper

NM_007007.3

p.G377C

c.1129G>T

1 paper

NM_007007.3

p.R326H

c.977G>A

1 paper

NM_007007.3

p.P380S

c.1138C>T

1 paper

NM_007007.3

p.P380L

c.1139C>T

1 paper

NM_007007.3

p.P383A

c.1147C>G

1 paper

NM_007007.3

p.P383S

c.1147C>T

1 paper

NM_007007.3

p.P317A

c.949C>G

1 paper

NM_007007.3

p.P389Q

c.1166C>A