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

Selected Variant

1 paper

NM_001346413.3

p.K94T

c.281A>C

Surrounding Variants

1 paper

NM_001346413.3

p.P66ins5

c.196_197ins15

1 paper

NM_001346413.3

p.T111N

c.332C>A

1 paper

NM_001346413.3

p.S120A

c.358T>G

1 paper

NM_001346413.3

p.T121A

c.361A>G

1 paper

NM_001346413.3

p.L131_Y132delFs

c.393_394delTT

1 paper

NM_001346413.3

p.Y132fs

c.394_395fs

1 paper

NM_001346413.3

p.T156M

c.467C>T

1 paper

NM_001346413.3

p.K164R

c.491A>G

1 paper

NM_001346413.3

p.N167S

c.500A>G

1 paper

NM_001346413.3

p.K168N

c.504A>C

1 paper

NM_001346413.3

p.K168N

c.504A>T

1 paper

NM_001346413.3

p.K196_N197ins15

c.586_590ins45