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.R1018H

c.3053G>A

Surrounding Variants

2 papers

NM_013432.5

p.G973R

c.2917G>C

2 papers

NM_013432.5

p.G973R

c.2917G>A

1 paper

NM_013432.5

p.C972C

c.2916C>T

2 papers

NM_013432.5

p.Y969*

c.2907C>G

2 papers

NM_013432.5

p.Y969*

c.2907C>A

2 papers

NM_013432.5

p.R967C

c.2899C>T

1 paper

NM_013432.5

p.E1030*

c.3088G>T

1 paper

NM_013432.5

p.Q1033fs

c.3097_3098fs

1 paper

NM_013432.5

p.Q1032insFs

c.3096dupA

1 paper

NM_013432.5

p.E1039K

c.3115G>A

1 paper

NM_013432.5

p.L1040P

c.3119T>C

1 paper

NM_013432.5

p.Q1041L

c.3122A>T