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.G41Splc

c.122-5C>G

Surrounding Variants

2 papers

NM_013432.5

p.R42H

c.125G>A

1 paper

NM_013432.5

p.E45*

c.133G>T

1 paper

NM_013432.5

p.Q52*

c.154C>T

2 papers

NM_013432.5

p.E58D

c.174G>C

1 paper

NM_013432.5

p.A85T

c.253G>A

1 paper

NM_013432.5

p.A27T

c.79G>A

1 paper

NM_013432.5

p.E26Q

c.76G>C

1 paper

NM_013432.5

p.E4Q

c.10G>C

1 paper

NM_013432.5

p.S2N

c.5G>A

1 paper

NM_013432.5

p.M1K

c.2T>A

1 paper

NM_013432.5

p.H98N

c.292C>A

1 paper

NM_013432.5

p.H98L

c.293A>T