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.G203R

c.607G>C

Surrounding Variants

1 paper

NM_003724.4

p.G203S

c.607G>A

1 paper

NM_003724.4

p.P201P

c.603G>A

1 paper

NM_003724.4

p.P209S

c.625C>T

1 paper

NM_003724.4

p.S227F

c.680C>T

1 paper

NM_003724.4

p.H249insFs

c.745_746ins4

1 paper

NM_003724.4

p.L250P

c.749T>C

1 paper

NM_003724.4

p.Q155delFs

c.463_464delTG

1 paper

NM_003724.4

p.Q155delFs

c.463delG

2 papers

NM_003724.4

p.E153K

c.457G>A

1 paper

NM_003724.4

p.Y254H

c.760T>C

1 paper

NM_003724.4

p.S268_D269delFs

c.803_806del4

1 paper

NM_003724.4

p.W270*

c.809G>A