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

3 papers

NM_000214.3

p.N173_T174insFs

c.518_521dup4

Surrounding Variants

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.T174M

c.521C>T

1 paper

NM_000214.3

p.G175fs

c.523_524fs

1 paper

NM_000214.3

p.G175V

c.524G>T

1 paper

NM_000214.3

p.G175G

c.525C>T

1 paper

NM_000214.3

p.N173delFs

c.518delT

9 papers

NM_000214.3

p.V176I

c.526G>A

1 paper

NM_000214.3

p.N173S

c.518A>G

1 paper

NM_000214.3

p.T169_V176del0

c.507_527del21

1 paper

NM_000214.3

p.Q172H

c.516G>T

1 paper

NM_000214.3

p.Q172H

c.516G>C