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.H98N

c.292C>A

Surrounding Variants

1 paper

NM_013432.5

p.H98L

c.293A>T

2 papers

NM_013432.5

p.S99fs

c.295_296fs

1 paper

NM_013432.5

p.S99delFs

c.295delA

1 paper

NM_013432.5

p.S99fs

c.295_296fs

1 paper

NM_013432.5

p.R101C

c.301C>T

1 paper

NM_013432.5

p.T104S

c.310A>T

2 papers

NM_013432.5

p.T104M

c.311C>T

1 paper

NM_013432.5

p.Q107Q

c.321G>A

1 paper

NM_013432.5

p.W110*

c.329G>A

1 paper

NM_013432.5

p.W110*

c.330G>A

1 paper

NM_013432.5

p.R115H

c.344G>A

1 paper

NM_013432.5

p.L118L

c.354G>A