Varaico: Literature-Extracted Genetic Variants

CSTF2

52 papers

RefSeq Summary

This gene encodes a nuclear protein with an RRM (RNA recognition motif) domain. The protein is a member of the cleavage stimulation factor (CSTF) complex that is involved in the 3' end cleavage and po...

Pfam Domains

RRM_1aa 18–88UCSCRNA recognition motif

CSTF2_hingeaa 112–191UCSCHinge domain of cleavage stimulation factor subunit 2

CSTF_Caa 553–593UCSCTranscription termination and cleavage factor C-terminal

Gene Aliases

HGNC Name

cleavage stimulation factor subunit 2

HGNC Alias Symbol

CstF-64

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001325.3

p.R80H

c.239G>A

Surrounding Variants

1 paper

NM_001325.3

p.N78K

c.234T>A

1 paper

NM_001325.3

p.N78K

c.234T>G

1 paper

NM_001325.3

p.A86A

c.258A>G

1 paper

NM_001325.3

p.A73V

c.218C>T

1 paper

NM_001325.3

p.K96E

c.286A>G

1 paper

NM_001325.3

p.K98E

c.292A>G

1 paper

NM_001325.3

p.E100K

c.298G>A

1 paper

NM_001325.3

p.L101P

c.302T>C

1 paper

NM_001325.3

p.K57E

c.169A>G

1 paper

NM_001325.3

p.K55E

c.163A>G

4 papers

NM_001325.3

p.D50A

c.149A>C

1 paper

NM_001325.3

p.Q31H

c.93G>C