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

2 papers

NM_001375524.1

p.C1217R

c.3649T>C

Surrounding Variants

1 paper

NM_001375524.1

p.R1216Q

c.3647G>A

1 paper

NM_001375524.1

p.L1214P

c.3641T>C

2 papers

NM_001375524.1

p.Q1212H

c.3636G>C

1 paper

NM_001375524.1

p.Q1212H

c.3636G>T

1 paper

NM_001375524.1

p.E1211E

c.3633G>A

1 paper

NM_001375524.1

p.T1209M

c.3626C>T

1 paper

NM_001375524.1

p.E1228K

c.3682G>A

1 paper

NM_001375524.1

p.A1206S

c.3616G>T

1 paper

NM_001375524.1

p.I1230M

c.3690C>G

1 paper

NM_001375524.1

p.V1203F

c.3607G>T

1 paper

NM_001375524.1

p.S1199F

c.3596C>T

1 paper

NM_001375524.1

p.F1238_H1239delFs

c.3712_3716del5