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

3 papers

NM_005679.4

p.R405C

c.1213C>T

Surrounding Variants

1 paper

NM_001243158.2

p.R57H

c.170G>A

3 papers

NM_005679.4

p.R389C

c.1165C>T

1 paper

NM_001243156.2

p.L344insFs

c.1030_1031insG

1 paper

NM_001243156.2

p.S405L

c.1214C>T

1 paper

NM_001243156.2

p.S405S

c.1215G>A

1 paper

NM_005679.4

p.T455A

c.1363A>G

NM_001243156.2

p.T429A

c.1285A>G

1 paper

NM_001243156.2

p.T429I

c.1286C>T

1 paper

NM_001243156.2

p.Q305E

c.913C>G

1 paper

NM_001243156.2

p.A283A

c.849C>T

1 paper

NM_001243156.2

p.G266fs

c.796_797fs

1 paper

NM_001243156.2

p.P249L

c.746C>T

1 paper

NM_001243156.2

p.F242L

c.726C>G