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.V28fs

c.82_83fs

Surrounding Variants

2 papers

NM_000214.3

p.V28L

c.82G>T

2 papers

NM_000214.3

p.V28L

c.82G>C

1 paper

NM_000214.3

p.V28M

c.82G>A

1 paper

NM_000214.3

p.K27_V28Splc

c.82-1G>A

1 paper

NM_000214.3

p.V28V

c.84G>A

1 paper

NM_000214.3

p.K27_V28Splc

c.82-2A>G

1 paper

NM_000214.3

p.C29S

c.85T>A

1 paper

NM_000214.3

p.C29S

c.86G>C

4 papers

NM_000214.3

p.K27_V28Splc

c.82-6C>A

1 paper

NM_000214.3

p.G30A

c.89G>C

2 papers

NM_000214.3

p.G30E

c.89G>A

2 papers

NM_000214.3

p.A31fs

c.91_92fs