Varaico: Literature-Extracted Genetic Variants

TAF1C

130 papers

RefSeq Summary

Initiation of transcription by RNA polymerase I requires the formation of a complex composed of the TATA-binding protein (TBP) and three TBP-associated factors (TAFs) specific for RNA polymerase I. Th...

Pfam Domains

TAF1C_beta-propaa 308–445UCSCTAF1C, beta-propeller

TAF1C_HBaa 555–764UCSCTAF1C, helical bundle domain

TAF1C_Caa 789–869UCSCTAF1C, C-terminal domain

Gene Aliases

HGNC Name

TATA-box binding protein associated factor, RNA polymerase I subunit C

HGNC Alias Symbols

TAFI110; TAFI95; SL1; MGC:39976

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001243156.2

p.F242L

c.726C>G

Surrounding Variants

1 paper

NM_001243156.2

p.P249L

c.746C>T

1 paper

NM_001243156.2

p.G266fs

c.796_797fs

1 paper

NM_001243156.2

p.R239S

c.717G>T

1 paper

NM_001243156.2

p.R239S

c.717G>C

1 paper

NM_001243156.2

p.A283A

c.849C>T

1 paper

NM_001243156.2

p.G221*

c.661G>T

1 paper

NM_001243156.2

p.G221R

c.661G>C

1 paper

NM_001243156.2

p.G221R

c.661G>A

1 paper

NM_001243156.2

p.G213A

c.638G>C

1 paper

NM_001243156.2

p.W202insFs

c.604_605insCC

1 paper

NM_001243156.2

p.Q305E

c.913C>G

1 paper

NM_001243156.2

p.R201Q

c.602G>A