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.A215V

c.644C>T

Surrounding Variants

1 paper

NM_013432.5

p.R214insFs

c.642dupC

1 paper

NM_013432.5

p.R214H

c.641G>A

1 paper

NM_013432.5

p.E199K

c.595G>A

1 paper

NM_013432.5

p.C245fs

c.733_734fs

1 paper

NM_013432.5

p.C245W

c.735C>G

2 papers

NM_013432.5

p.V246fs

c.736_737fs

1 paper

NM_013432.5

p.V246delFs

c.737delA

1 paper

NM_013432.5

p.E193Splc

c.578+1G>T

1 paper

NM_013432.5

p.R186G

c.556A>G

2 papers

NM_013432.5

p.S174N

c.521G>A

1 paper

NM_013432.5

p.L164delFs

c.490delG

1 paper

NM_013432.5

p.L164fs

c.490_491fs