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.P257S

c.769C>T

Surrounding Variants

2 papers

NM_001325.3

p.Q247*

c.739C>T

1 paper

NM_001325.3

p.A273S

c.817G>T

1 paper

NM_001325.3

p.L234_G235Splc

c.703-131A>G

1 paper

NM_001325.3

p.R294W

c.880C>T

1 paper

NM_001325.3

p.A228G

c.683C>G

1 paper

NM_001325.3

p.P205L

c.614C>T

1 paper

NM_001325.3

p.A202P

c.604G>C

1 paper

NM_001325.3

p.P198L

c.593C>T

1 paper

NM_001325.3

p.T195P

c.583A>C

1 paper

NM_001325.3

p.I190L

c.568A>C

1 paper

NM_001325.3

p.L173P

c.518T>C

1 paper

NM_001325.3

p.Q164*

c.490C>T