Varaico: Literature-Extracted Genetic Variants

CSTF1

38 papers

RefSeq Summary

This gene encodes one of three subunits which combine to form cleavage stimulation factor (CSTF). CSTF is involved in the polyadenylation and 3'end cleavage of pre-mRNAs. Similar to mammalian G protei...

Pfam Domains

CSTF1_dimeraa 7–62UCSCCleavage stimulation factor subunit 1, dimerisation domain

WD40aa 100–136UCSCWD domain, G-beta repeat

WD40aa 164–201UCSCWD domain, G-beta repeat

WD40aa 213–245UCSCWD domain, G-beta repeat

WD40aa 252–290UCSCWD domain, G-beta repeat

WD40aa 294–334UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

cleavage stimulation factor subunit 1

HGNC Previous Names

cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kD; cleavage stimulation factor, 3' pre-RNA, subunit 1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001324.3

p.M92T

c.275T>C

Surrounding Variants

1 paper

NM_001324.3

p.P77S

c.229C>T

1 paper

NM_001324.3

p.S144T

c.431G>C

3 papers

NM_001324.3

p.A156T

c.466G>A

1 paper

NM_001324.3

p.M160V

c.478A>G

1 paper

NM_001324.3

p.R167*

c.499C>T

1 paper

NM_001324.3

p.V173G

c.518T>G

1 paper

NM_001324.3

p.L50F

c.148C>T

1 paper

NM_001324.3

p.P46A

c.136C>G

1 paper

NM_001324.3

p.N32D

c.94A>G

1 paper

NM_001324.3

p.G26S

c.76G>A

1 paper

NM_001324.3

p.I232fs

c.694_695fs

1 paper

NM_001324.3

p.I19V

c.55A>G