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

1–12 of 172 variants

5 papers

NM_013432.5

p.E487K

c.1459G>A

4 papers

NM_013432.5

p.E494K

c.1480G>A

3 papers

NM_013432.5

p.E494K

c.1480G>A

3 papers

NM_013432.5

p.E539K

c.1615G>A

3 papers

NM_013432.5

p.R934W

c.2800C>T

2 papers

NM_013432.5

p.G41Splc

c.122-5C>G

2 papers

NM_013432.5

p.R42H

c.125G>A

2 papers

NM_013432.5

p.E58D

c.174G>C

2 papers

NM_013432.5

p.S99fs

c.295_296fs

2 papers

NM_013432.5

p.T104M

c.311C>T

2 papers

NM_013432.5

p.S174N

c.521G>A

2 papers

NM_013432.5

p.V246fs

c.736_737fs