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.L109L

c.327C>T

Surrounding Variants

2 papers

NM_000214.3

p.K110fs

c.328_329fs

2 papers

NM_000214.3

p.A111T

c.331G>A

2 papers

NM_000214.3

p.L109_K110delFs

c.327_330del4

3 papers

NM_000214.3

p.N108I

c.323A>T

1 paper

NM_000214.3

p.A111V

c.332C>T

2 papers

NM_000214.3

p.N108H

c.322A>C

1 paper

NM_000214.3

p.A111A

c.333C>A

1 paper

NM_000214.3

p.S112G

c.334A>G

1 paper

NM_000214.3

p.S112R

c.334A>C

1 paper

NM_000214.3

p.A111insFs

c.332dupC

1 paper

NM_000214.3

p.S112N

c.335G>A

1 paper

NM_000214.3

p.S112delFs

c.334delT