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

2 papers

NM_000214.3

p.V760delFs

c.2279_2280delCA

Surrounding Variants

1 paper

NM_000214.3

p.V761fs

c.2281_2282fs

1 paper

NM_000214.3

p.V760delFs

c.2278delC

2 papers

NM_000214.3

p.V760insFs

c.2278_2279insA

3 papers

NM_000214.3

p.V760fs

c.2278_2279fs

5 papers

NM_000214.3

p.C759F

c.2276G>T

2 papers

NM_000214.3

p.C759Fs

c.2276delinsCAFs

1 paper

NM_000214.3

p.C759G

c.2275T>G

2 papers

NM_000214.3

p.C759fs

c.2275_2276fs

2 papers

NM_000214.3

p.G763insFs

c.2287_2288ins4

1 paper

NM_000214.3

p.G763S

c.2287G>A

1 paper

NM_000214.3

p.G763fs

c.2287_2288fs

2 papers

NM_000214.3

p.T758fs

c.2272_2273fs