Varaico: Literature-Extracted Genetic Variants

JRK

81 papers

RefSeq Summary

This gene encodes a conserved protein that is similar to DNA-binding proteins, such as major centromere autoantigen B (CENPB). Inactivation of the related gene in mice resulted in epileptic seizures. ...

Pfam Domains

CENP-B_Naa 14–66UCSCCENP-B N-terminal DNA-binding domain

HTH_Tnp_Tc5aa 86–149UCSCTc5 transposase DNA-binding domain

DDE_1aa 213–382UCSCDDE superfamily endonuclease

Gene Aliases

HGNC Name

Jrk helix-turn-helix protein

HGNC Alias Symbols

JH8; jerky

Papers

RefSeq ID

Protein change

DNA change

1–12 of 53 variants

4 papers

NM_003724.4

p.R476G

c.1426A>G

3 papers

NM_003724.4

p.T456M

c.1367C>T

3 papers

NM_003724.4

p.R503W

c.1507C>T

2 papers

NM_003724.4

p.L86insFs

c.256dupC

2 papers

NM_003724.4

p.E153K

c.457G>A

2 papers

NM_003724.4

p.R435C

c.1303C>T

2 papers

NM_003724.4

p.R503Q

c.1508G>A

1 paper

NM_003724.4

p.M1V

c.1A>G

1 paper

NM_003724.4

p.K23R

c.68A>G

1 paper

NM_003724.4

p.I26T

c.77T>C

1 paper

NM_003724.4

p.T30M

c.89C>T

1 paper

NM_003724.4

p.E44*

c.130G>T