Varaico: Literature-Extracted Genetic Variants

TONSL

114 papers

RefSeq Summary

The protein encoded by this gene is thought to be a negative regulator of NF-kappa-B mediated transcription. The encoded protein may bind NF-kappa-B complexes and trap them in the cytoplasm, preventin...

Pfam Domains

TPR_8aa 242–272UCSCTetratricopeptide repeat

Ankaa 561–592UCSCAnkyrin repeat

Ankaa 597–629UCSCAnkyrin repeat

LRR_6aa 1096–1119UCSCLeucine Rich repeat

Gene Aliases

HGNC Name

tonsoku like, DNA repair protein

HGNC Previous Symbol

NFKBIL2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_013432.5

p.V613L

c.1837G>C

Surrounding Variants

2 papers

NM_013432.5

p.V613L

c.1837G>T

1 paper

NM_013432.5

p.C608G

c.1822T>G

1 paper

NM_013432.5

p.L618F

c.1852C>T

1 paper

NM_013432.5

p.N607T

c.1820A>C

1 paper

NM_013432.5

p.R620R

c.1860G>A

1 paper

NM_013432.5

p.D604A

c.1811A>C

2 papers

NM_013432.5

p.A622fs

c.1864_1865fs

2 papers

NM_013432.5

p.A622insFs

c.1864dupG

1 paper

NM_013432.5

p.E597K

c.1789G>A

2 papers

NM_013432.5

p.D590N

c.1768G>A

1 paper

NM_013432.5

p.A587T

c.1759G>A

1 paper

NM_013432.5

p.E576A

c.1727A>C