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

1 paper

NM_013432.5

p.R789W

c.2365C>T

Surrounding Variants

1 paper

NM_013432.5

p.S788N

c.2363G>A

1 paper

NM_013432.5

p.Q803*

c.2407C>T

1 paper

NM_013432.5

p.R805W

c.2413C>T

1 paper

NM_013432.5

p.R812Q

c.2435G>A

1 paper

NM_013432.5

p.P755L

c.2264C>T

1 paper

NM_013432.5

p.A823V

c.2468C>T

1 paper

NM_013432.5

p.A823A

c.2469G>A

1 paper

NM_013432.5

p.S749N

c.2246G>A

1 paper

NM_013432.5

p.T843P

c.2527A>C

1 paper

NM_013432.5

p.R844C

c.2530C>T

2 papers

NM_013432.5

p.R849C

c.2545C>T

1 paper

NM_013432.5

p.Q722*

c.2164C>T