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.L549M

c.1645T>A

Surrounding Variants

2 papers

NM_001243156.2

p.P547L

c.1640C>T

1 paper

NM_005679.4

p.S589T

c.1765T>A

1 paper

NM_005679.4

p.S589L

c.1766C>T

1 paper

NM_001243156.2

p.D567N

c.1699G>A

1 paper

NM_001243156.2

p.R534delFs

c.1600delG

1 paper

NM_001243156.2

p.S604_Q605insCC

c.1810_1814ins6

2 papers

NM_001243156.2

p.G609S

c.1825G>A

1 paper

NM_001243156.2

p.W613delFs

c.1838delC

1 paper

NM_001243158.2

p.Q202K

c.604C>A

2 papers

NM_001243156.2

p.A623V

c.1868C>T

1 paper

NM_001243156.2

p.G497R

c.1489G>C

1 paper

NM_001243156.2

p.G497R

c.1489G>A