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

Selected Variant

1 paper

NM_003724.4

p.S268_D269delFs

c.803_806del4

Surrounding Variants

1 paper

NM_003724.4

p.W270*

c.809G>A

1 paper

NM_003724.4

p.Y254H

c.760T>C

1 paper

NM_003724.4

p.L250P

c.749T>C

1 paper

NM_003724.4

p.H249insFs

c.745_746ins4

1 paper

NM_003724.4

p.L298L

c.892C>T

1 paper

NM_003724.4

p.P305L

c.914C>T

1 paper

NM_003724.4

p.P305_Q306insFs

c.915_916insC

1 paper

NM_003724.4

p.S227F

c.680C>T

1 paper

NM_003724.4

p.S313R

c.937A>C

1 paper

NM_003724.4

p.I318N

c.953T>A

1 paper

NM_003724.4

p.V328V

c.984G>T

1 paper

NM_003724.4

p.P209S

c.625C>T