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.P240del1

c.718_720delAGG

Surrounding Variants

1 paper

NM_000214.3

p.K241*

c.721A>T

1 paper

NM_000214.3

p.P240insFs

c.719dupC

1 paper

NM_000214.3

p.K241R

c.722A>G

1 paper

NM_000214.3

p.K241K

c.723G>A

1 paper

NM_000214.3

p.P240S

c.718C>T

1 paper

NM_000214.3

p.C238_K241ins1

c.712_723dup12

3 papers

NM_000214.3

p.S239insFs

c.715dupA

1 paper

NM_000214.3

p.C238_S239insFs

c.714_715insCA

1 paper

NM_000214.3

p.S239N

c.716G>A

3 papers

NM_000214.3

p.S239fs

c.715_716fs

1 paper

NM_000214.3

p.G243R

c.727G>C

3 papers

NM_000214.3

p.C238insFs

c.712_713dupTG