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.Q430delFs

c.1289delT

Surrounding Variants

1 paper

NM_013432.5

p.Q430L

c.1289A>T

1 paper

NM_013432.5

p.Q430R

c.1289A>G

1 paper

NM_013432.5

p.C420R

c.1258T>C

1 paper

NM_013432.5

p.A411T

c.1231G>A

1 paper

NM_013432.5

p.G404G

c.1212C>T

1 paper

NM_013432.5

p.G404D

c.1211G>A

1 paper

NM_013432.5

p.E402V

c.1205A>T

1 paper

NM_013432.5

p.E401K

c.1201G>A

1 paper

NM_013432.5

p.R431fs

c.1291_1292fs

1 paper

NM_013432.5

p.Q441*

c.1321C>T

1 paper

NM_013432.5

p.L456L

c.1368A>G

1 paper

NM_013432.5

p.E469_A471del0

c.1406_1411del6