Varaico: Literature-Extracted Genetic Variants

CPSF7

19 papers

RefSeq Summary

Cleavage factor Im (CFIm) is one of six factors necessary for correct cleavage and polyadenylation of pre-mRNAs. CFIm is composed of three different subunits of 25, 59, and 68 kDa, and it functions as...

Pfam Domains

RRM_1aa 84–156UCSCRNA recognition motif

RSLD_CPSF6aa 335–440UCSCCPSF6-like, RSLD domain, N-terminal region

Gene Aliases

HGNC Name

cleavage and polyadenylation specific factor 7

HGNC Alias Symbols

FLJ12529; CFIM59

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001142565.3

p.R162R

c.486G>A

Surrounding Variants

1 paper

NM_001142565.3

p.R162Q

c.485G>A

1 paper

NM_001142565.3

p.P159L

c.476C>T

1 paper

NM_001142565.3

p.R183*

c.547C>T

1 paper

NM_001142565.3

p.P232L

c.695C>T

1 paper

NM_001142565.3

p.P235S

c.703C>T

1 paper

NM_001142565.3

p.A292T

c.874G>A

1 paper

NM_001142565.3

p.I331S

c.992T>G