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.C948fs

c.2842_2843fs

Surrounding Variants

1 paper

NM_000214.3

p.K947insFs

c.2840dupA

1 paper

NM_000214.3

p.K947delFs

c.2839delT

1 paper

NM_000214.3

p.T946_K947delFs

c.2838_2839delTT

2 papers

NM_000214.3

p.C948*

c.2844C>A

2 papers

NM_000214.3

p.C948delFs

c.2844delG

1 paper

NM_000214.3

p.T949delFs

c.2845delT

2 papers

NM_000214.3

p.T946delFs

c.2836delT

1 paper

NM_000214.3

p.T946fs

c.2836_2837fs

1 paper

NM_000214.3

p.K945R

c.2834A>G

4 papers

NM_000214.3

p.S950delFs

c.2850delA

1 paper

NM_000214.3

p.S950delFs

c.2849_2850delAG

3 papers

NM_000214.3

p.D951fs

c.2851_2852fs