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.K1273N

c.3819G>C

Surrounding Variants

1 paper

NM_001375524.1

p.K1273N

c.3819G>T

1 paper

NM_001375524.1

p.L1267delFs

c.3801delG

3 papers

NM_001375524.1

p.E1284Q

c.3850G>C

1 paper

NM_001375524.1

p.E1284V

c.3851A>T

2 papers

NM_001375524.1

p.S1254Y

c.3761C>A

1 paper

NM_001375524.1

p.P1252P

c.3756A>T

1 paper

NM_001375524.1

p.T1250S

c.3749C>G

1 paper

NM_001375524.1

p.T1250I

c.3749C>T

1 paper

NM_001375524.1

p.T1250S

c.3748A>T

1 paper

NM_001375524.1

p.D1244N

c.3730G>A

1 paper

NM_001375524.1

p.F1238_H1239delFs

c.3712_3716del5

1 paper

NM_001375524.1

p.I1230M

c.3690C>G