Varaico: Literature-Extracted Genetic Variants

Gene:TRRAP
Variant:p.L821F

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.L821F
c.2463G>T
Surrounding Variants
1 paper
NM_001375524.1
p.L821F
c.2463G>C
1 paper
NM_001375524.1
p.P825S
c.2473C>T
1 paper
NM_001375524.1
p.P825L
c.2474C>T
8 papers
NM_001375524.1
p.R816W
c.2446C>T
1 paper
NM_001375524.1
p.P814S
c.2440C>T
1 paper
NM_001375524.1
p.V813V
c.2439C>G
1 paper
NM_001375524.1
p.V832M
c.2494G>A
1 paper
NM_001375524.1
p.V807L
c.2419G>C
1 paper
NM_001375524.1
p.V807L
c.2419G>T
1 paper
NM_001375524.1
p.L805P
c.2414T>C
3 papers
NM_001375524.1
p.L805F
c.2413C>T
2 papers
NM_001375524.1
p.V842I
c.2524G>A
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