Varaico: Literature-Extracted Genetic Variants

Gene:TRRAP
Variant:p.A1116P

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.A1116P
c.3346G>C
Surrounding Variants
1 paper
NM_001375524.1
p.G1111W
c.3331G>T
3 papers
NM_001375524.1
p.E1106K
c.3316G>A
1 paper
NM_001375524.1
p.K1105E
c.3313A>G
1 paper
NM_001375524.1
p.E1104G
c.3311A>G
1 paper
NM_001375524.1
p.R1131S
c.3393G>C
1 paper
NM_001375524.1
p.R1131S
c.3393G>T
1 paper
NM_001375524.1
p.D1088H
c.3262G>C
1 paper
NM_001375524.1
p.S1084L
c.3251C>T
1 paper
NM_001375524.1
p.N1082N
c.3246T>C
1 paper
NM_001375524.1
p.E1080K
c.3238G>A
1 paper
NM_001375524.1
p.P1072R
c.3215C>G
1 paper
NM_001375524.1
p.L1062W
c.3185T>G
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