Varaico: Literature-Extracted Genetic Variants

Gene:TRRAP
Variant:p.Q2749_E2750Splc

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.Q2749_E2750Splc
c.8247+68T>C
Surrounding Variants
1 paper
NM_001244580.2
p.T2738P
c.8212A>C
4 papers
NM_001375524.1
p.E2750D
c.8250G>C
4 papers
NM_001375524.1
p.E2750D
c.8250G>T
2 papers
NM_001244580.2
p.E2750D
c.8250G>C
2 papers
NM_001244580.2
p.E2750D
c.8250G>T
1 paper
NM_001375524.1
p.Q2729Q
c.8187G>A
1 paper
NM_001375524.1
p.A2769P
c.8305G>C
1 paper
NM_001375524.1
p.L2700L
c.8098C>T
1 paper
NM_001375524.1
p.R2696Q
c.8087G>A
2 papers
NM_001375524.1
p.E2794D
c.8382G>C
2 papers
NM_001375524.1
p.E2794D
c.8382G>T
1 paper
NM_001375524.1
p.Q2652P
c.7955A>C
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