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.Q291E

c.871C>G

Surrounding Variants

3 papers

NM_000214.3

p.Q291*

c.871C>T

1 paper

NM_000214.3

p.G290G

c.870C>T

2 papers

NM_000214.3

p.Q291L

c.872A>T

1 paper

NM_000214.3

p.G290S

c.868G>A

1 paper

NM_000214.3

p.G289G

c.867C>T

1 paper

NM_000214.3

p.G289fs

c.865_866fs

4 papers

NM_000214.3

p.G289delFs

c.866delC

1 paper

NM_000214.3

p.G289V

c.866G>T

4 papers

NM_000214.3

p.G289D

c.866G>A

1 paper

NM_000214.3

p.C293_D294insC

c.877_881ins3

1 paper

NM_000214.3

p.G289fs

c.865_866fs

6 papers

NM_000214.3

p.W288C

c.864G>T