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.G756A

c.2267G>C

Surrounding Variants

1 paper

NM_000214.3

p.N755del1

c.2263_2264delATT

2 papers

NM_000214.3

p.G757fs

c.2269_2270fs

2 papers

NM_000214.3

p.G757insFs

c.2270_2271insG

3 papers

NM_000214.3

p.G757insFs

c.2269_2270dupGG

1 paper

NM_000214.3

p.G757fs

c.2269_2270fs

2 papers

NM_000214.3

p.G757delFs

c.2269_2270delCC

2 papers

NM_000214.3

p.T758fs

c.2272_2273fs

1 paper

NM_000214.3

p.H754delFs

c.2260delG

1 paper

NM_000214.3

p.C759G

c.2275T>G

2 papers

NM_000214.3

p.C759fs

c.2275_2276fs

5 papers

NM_000214.3

p.C759F

c.2276G>T

2 papers

NM_000214.3

p.C759Fs

c.2276delinsCAFs