Varaico: Literature-Extracted Genetic Variants

PCF11

62 papers

RefSeq Summary

The protein encoded by this gene binds to CLP1 to form pre-mRNA cleavage factor IIm. The encoded protein is necessary for efficient Pol II transcription termination and may be involved in degradation ...

Pfam Domains

CIDaa 21–133UCSCCID domain

Pcf11_helicalaa 198–237UCSCPre-mRNA cleavage complex 2 protein Pcf11, alpha-helical domain

PCF11_chargedaa 328–500UCSCPCF11, charged region

PCF11_RFEG_rptaa 763–862UCSCPre-mRNA cleavage complex 2 protein Pcf11, RFEGP repeat

PCF11_RFEG_rptaa 863–962UCSCPre-mRNA cleavage complex 2 protein Pcf11, RFEGP repeat

PCF11_RFEG_rptaa 949–1037UCSCPre-mRNA cleavage complex 2 protein Pcf11, RFEGP repeat

Gene Aliases

HGNC Name

PCF11 cleavage and polyadenylation factor subunit

HGNC Alias Symbol

KIAA0824

Papers

RefSeq ID

Protein change

DNA change

1–12 of 92 variants

2 papers

NM_001346413.3

p.K592E

c.1774A>G

2 papers

NM_001346413.3

p.K592T

c.1775A>C

2 papers

NM_001346413.3

p.K598T

c.1793A>C

2 papers

NM_001346413.3

p.T1520A

c.4558A>G

1 paper

NM_001346413.3

p.E8Q

c.22G>C

1 paper

NM_001346413.3

p.E16insFs

c.46_47insT

1 paper

NM_001346413.3

p.L26P

c.77T>C

1 paper

NM_001346413.3

p.K52E

c.154A>G

1 paper

NM_001346413.3

p.Q61R

c.182A>G

1 paper

NM_001346413.3

p.P66ins5

c.196_197ins15

1 paper

NM_001346413.3

p.K94T

c.281A>C

1 paper

NM_001346413.3

p.T111N

c.332C>A