Varaico: Literature-Extracted Genetic Variants

Gene:TRRAP
Variant:p.R171C

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
4 papers
NM_001375524.1
p.R171C
c.511C>T
Surrounding Variants
1 paper
NM_001375524.1
p.I179T
c.536T>C
1 paper
NM_001375524.1
p.E181K
c.541G>A
1 paper
NM_001375524.1
p.P186S
c.556C>T
1 paper
NM_001375524.1
p.M189I
c.567G>A
1 paper
NM_001375524.1
p.M189I
c.567G>C
1 paper
NM_001375524.1
p.M189I
c.567G>T
1 paper
NM_001375524.1
p.V200D
c.599T>A
1 paper
NM_001375524.1
p.E203K
c.607G>A
1 paper
NM_001375524.1
p.R204C
c.610C>T
1 paper
NM_001375524.1
p.E208K
c.622G>A
1 paper
NM_001375524.1
p.R210Q
c.629G>A
1 paper
NM_001375524.1
p.T211K
c.632C>A
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