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.C71S

c.212G>C

Surrounding Variants

1 paper

NM_000214.3

p.C71insFs

c.211_212insT

1 paper

NM_000214.3

p.C71fs

c.211_212fs

1 paper

NM_000214.3

p.C71*

c.213T>A

1 paper

NM_000214.3

p.C71S

c.211T>A

1 paper

NM_000214.3

p.E70D

c.210G>T

1 paper

NM_000214.3

p.E70D

c.210G>C

3 papers

NM_000214.3

p.D72N

c.214G>A

1 paper

NM_000214.3

p.C71_D72Fs

c.213_215delinsCAFs

1 paper

NM_000214.3

p.D72A

c.215A>C

1 paper

NM_000214.3

p.E70A

c.209A>C

2 papers

NM_000214.3

p.E70K

c.208G>A

1 paper

NM_000214.3

p.D72D

c.216C>T