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

2 papers

NM_001261833.2

p.S326L

c.977C>T

Surrounding Variants

1 paper

NM_001261833.2

p.D327G

c.980A>G

1 paper

NM_001261833.2

p.Q328H

c.984G>C

1 paper

NM_001261833.2

p.Q328H

c.984G>T

1 paper

NM_001261833.2

p.T333A

c.997A>G

1 paper

NM_001261833.2

p.T333M

c.998C>T

1 paper

NM_001261833.2

p.Q344H

c.1032G>C

1 paper

NM_001261833.2

p.Q344H

c.1032G>T

1 paper

NM_001261833.2

p.L289L

c.867C>T

1 paper

NM_001261833.2

p.E368V

c.1103A>T

1 paper

NM_001261833.2

p.D401G

c.1202A>G

1 paper

NM_001261833.2

p.H416R

c.1247A>G

1 paper

NM_001261833.2

p.T417T

c.1251C>T