Varaico: Literature-Extracted Genetic Variants

JRKL

23 papers

RefSeq Summary

The function of this gene has not yet been defined, however, the encoded protein shares similarity with the human (41% identical) and mouse (34% identical) jerky gene products. This protein may act as...

Pfam Domains

CENP-B_Naa 4–55UCSCCENP-B N-terminal DNA-binding domain

HTH_Tnp_Tc5aa 76–140UCSCTc5 transposase DNA-binding domain

DDE_1aa 206–385UCSCDDE superfamily endonuclease

Gene Aliases

HGNC Name

JRK like

HGNC Alias Symbol

HHMJG

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001261833.2

p.F155V

c.463T>G

Surrounding Variants

1 paper

NM_001261833.2

p.R165Q

c.494G>A

1 paper

NM_001261833.2

p.L181F

c.541C>T

1 paper

NM_001261833.2

p.I190T

c.569T>C

1 paper

NM_001261833.2

p.S191T

c.571T>A

1 paper

NM_001261833.2

p.K194T

c.581A>C

1 paper

NM_001261833.2

p.Y111*

c.333T>A

1 paper

NM_001261833.2

p.K203N

c.609A>C

1 paper

NM_001261833.2

p.K203N

c.609A>T

1 paper

NM_001261833.2

p.S204L

c.611C>T

1 paper

NM_001261833.2

p.I205V

c.613A>G

1 paper

NM_001261833.2

p.I205S

c.614T>G

1 paper

NM_001261833.2

p.E207_R208delFs

c.621_624del4