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.C220fs

c.658_659fs

Surrounding Variants

1 paper

NM_000214.3

p.Q214_T219delFs

c.640_656del17

5 papers

NM_000214.3

p.C220F

c.659G>T

2 papers

NM_000214.3

p.T219delFs

c.655delT

1 paper

NM_000214.3

p.Q214_T219Fs

c.642_656delinsCFs

1 paper

NM_000214.3

p.T219fs

c.655_656fs

1 paper

NM_000214.3

p.M221V

c.661A>G

1 paper

NM_000214.3

p.T219A

c.655A>G

2 papers

NM_000214.3

p.C220_M221Fs

c.659_661delinsTGFs

1 paper

NM_000214.3

p.K218E

c.652A>G

1 paper

NM_000214.3

p.N217K

c.651C>G

1 paper

NM_000214.3

p.N217K

c.651C>A

1 paper

NM_000214.3

p.E222G

c.665A>G