Varaico: Literature-Extracted Genetic Variants

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.P521L

c.1562C>T

Surrounding Variants

1 paper

NM_001375524.1

p.P521_A522delFs

c.1563_1564delGG

1 paper

NM_001375524.1

p.A522fs

c.1564_1565fs

1 paper

NM_001375524.1

p.T520A

c.1558A>G

1 paper

NM_001375524.1

p.V524M

c.1570G>A

1 paper

NM_001375524.1

p.P525L

c.1574C>T

2 papers

NM_001375524.1

p.T517P

c.1549A>C

2 papers

NM_001375524.1

p.A516P

c.1546G>C

1 paper

NM_001375524.1

p.P513L

c.1538C>T

1 paper

NM_001375524.1

p.P513S

c.1537C>T

1 paper

NM_001375524.1

p.P512fs

c.1534_1535fs

1 paper

NM_001375524.1

p.P510S

c.1528C>T

2 papers

NM_001375524.1

p.P509fs

c.1525_1526fs