Varaico: Literature-Extracted Genetic Variants

JAG1

745 papers

RefSeq Summary

The jagged 1 protein encoded by JAG1 is the human homolog of the Drosophilia jagged protein. Human jagged 1 is the ligand for the receptor notch 1, the latter is involved in signaling processes. Mutat...

Pfam Domains

MNNLaa 32–185UCSCN terminus of Notch ligand C2-like domain

DSLaa 187–232UCSCDelta serrate ligand

EGF_DL_JAGaa 272–297UCSCDelta-like/Jagged, EGF-like domain

EGFaa 300–332UCSCEGF-like domain

EGFaa 340–370UCSCEGF-like domain

EGFaa 378–408UCSCEGF-like domain

Gene Aliases

HGNC Name

jagged canonical Notch ligand 1

HGNC Previous Symbols

AGS; JAGL1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000214.3

p.C293_D294insC

c.877_881ins3

Surrounding Variants

1 paper

NM_000214.3

p.C293Y

c.878G>A

2 papers

NM_000214.3

p.C293*

c.879T>A

1 paper

NM_000214.3

p.D294N

c.880G>A

2 papers

NM_000214.3

p.C293_D294delFs

c.879_880delCA

1 paper

NM_000214.3

p.D294E

c.882C>G

1 paper

NM_000214.3

p.D294E

c.882C>A

2 papers

NM_000214.3

p.Q291L

c.872A>T

3 papers

NM_000214.3

p.Q291*

c.871C>T

1 paper

NM_000214.3

p.Q291E

c.871C>G

1 paper

NM_000214.3

p.D294_K295insFs

c.882_883insCT

1 paper

NM_000214.3

p.G290G

c.870C>T

1 paper

NM_000214.3

p.D296Y

c.886G>T