Varaico: Literature-Extracted Genetic Variants

Gene:TRRAP
Variant:p.F714L

TRRAP

457 papers

RefSeq Summary

This gene encodes a large multidomain protein of the phosphoinositide 3-kinase-related kinases (PIKK) family. The encoded protein is a common component of many histone acetyltransferase (HAT) complexe...

Pfam Domains

Tra1_centralaa 276–883UCSCTra1 HEAT repeat central region
Tra1_ringaa 893–2689UCSCTra1 HEAT repeat ring region
FATaa 2856–3200UCSCFAT domain
PI3_PI4_kinaseaa 3548–3797UCSCPhosphatidylinositol 3- and 4-kinase

Gene Aliases

HGNC Name

transformation/transcription domain associated protein

HGNC Alias Symbols

TR-AP; PAF400; Tra1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001375524.1
p.F714L
c.2140T>C
Surrounding Variants
1 paper
NM_001375524.1
p.F714L
c.2142C>A
1 paper
NM_001375524.1
p.F714L
c.2142C>G
1 paper
NM_001375524.1
p.V717_S720del4
c.2149_2159del12
1 paper
NM_001375524.1
p.V717V
c.2151C>T
1 paper
NM_001375524.1
p.S720F
c.2159C>T
2 papers
NM_001375524.1
p.S707P
c.2119T>C
30 papers
NM_001375524.1
p.S722F
c.2165C>T
1 paper
NM_001375524.1
p.S722S
c.2166C>T
1 paper
NM_001375524.1
p.E727V
c.2180A>T
5 papers
NM_001375524.1
p.R696H
c.2087G>A
1 paper
NM_001375524.1
p.R696C
c.2086C>T
1 paper
NM_001375524.1
p.D695H
c.2083G>C
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