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.Q172H

c.516G>T

Surrounding Variants

1 paper

NM_000214.3

p.Q172H

c.516G>C

4 papers

NM_000214.3

p.Q172*

c.514C>T

1 paper

NM_000214.3

p.N173S

c.518A>G

1 paper

NM_000214.3

p.K171K

c.513G>A

1 paper

NM_000214.3

p.N173delFs

c.518delT

1 paper

NM_000214.3

p.K171insFs

c.512_513insGC

3 papers

NM_000214.3

p.T174M

c.521C>T

3 papers

NM_000214.3

p.N173_T174insFs

c.518_521dup4

2 papers

NM_000214.3

p.L170fs

c.508_509fs

1 paper

NM_000214.3

p.T174T

c.522G>C

1 paper

NM_000214.3

p.T174T

c.522G>A

3 papers

NM_000214.3

p.L170delFs

c.509delA