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.Q511*

c.1531C>T

Surrounding Variants

1 paper

NM_013432.5

p.D496A

c.1487A>C

4 papers

NM_013432.5

p.E494K

c.1480G>A

1 paper

NM_013432.5

p.R524W

c.1570C>T

1 paper

NM_013432.5

p.E530A

c.1589A>C

1 paper

NM_013432.5

p.H534R

c.1601A>G

2 papers

NM_013432.5

p.A536fs

c.1606_1607fs

1 paper

NM_013432.5

p.H534_I538delFs

c.1602_1612del11

3 papers

NM_013432.5

p.E539K

c.1615G>A

1 paper

NM_013432.5

p.R544H

c.1631G>A

2 papers

NM_013432.5

p.V545I

c.1633G>A

3 papers

NM_013432.5

p.E494K

c.1480G>A

1 paper

NM_013432.5

p.G493delFs

c.1477delC