Varaico: Literature-Extracted Genetic Variants

Gene:TAF1C
Variant:p.W707delFs

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_beta-propaa 308–445UCSCTAF1C, beta-propeller
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.W707delFs
c.2120delC
Surrounding Variants
1 paper
NM_005679.4
p.R728G
c.2182C>G
1 paper
NM_001243156.2
p.G701G
c.2103C>T
1 paper
NM_001243156.2
p.G696R
c.2086G>C
1 paper
NM_001243156.2
p.G696R
c.2086G>A
1 paper
NM_001243156.2
p.P724L
c.2171C>T
1 paper
NM_001243158.2
p.S429L
c.1286C>T
1 paper
NM_001243156.2
p.P756A
c.2266C>G
1 paper
NM_001243156.2
p.G654D
c.1961G>A
1 paper
NM_001243158.2
p.R346Q
c.1037G>A
1 paper
NM_001243158.2
p.R346W
c.1036C>T
1 paper
NM_001243156.2
p.P767L
c.2300C>T
1 paper
NM_001243156.2
p.S640insFs
c.1919dupG
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