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.T477S

c.1429A>T

Surrounding Variants

1 paper

NM_013432.5

p.A474V

c.1421C>T

1 paper

NM_013432.5

p.E469_A471del0

c.1406_1411del6

5 papers

NM_013432.5

p.E487K

c.1459G>A

2 papers

NM_013432.5

p.S491fs

c.1471_1472fs

1 paper

NM_013432.5

p.S491S

c.1473A>T

1 paper

NM_013432.5

p.S491delFs

c.1471_1472delGA

1 paper

NM_013432.5

p.G493delFs

c.1477delC

3 papers

NM_013432.5

p.E494K

c.1480G>A

1 paper

NM_013432.5

p.L456L

c.1368A>G

1 paper

NM_013432.5

p.Q441*

c.1321C>T

1 paper

NM_013432.5

p.R431fs

c.1291_1292fs

1 paper

NM_013432.5

p.Q430delFs

c.1289delT