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.R130insFs

c.390dupG

Surrounding Variants

1 paper

NM_000214.3

p.S131P

c.391T>C

1 paper

NM_000214.3

p.R130delFs

c.390delC

1 paper

NM_000214.3

p.R130fs

c.388_389fs

1 paper

NM_000214.3

p.R130R

c.390G>A

1 paper

NM_000214.3

p.S131F

c.392C>T

1 paper

NM_000214.3

p.S131S

c.393C>T

1 paper

NM_000214.3

p.S131fs

c.391_392fs

2 papers

NM_000214.3

p.R130fs

c.388_389fs

3 papers

NM_000214.3

p.P129_R130Splc

c.388-1G>C

2 papers

NM_000214.3

p.P129_R130Splc

c.388-2A>G

2 papers

NM_000214.3

p.P129_R130Splc

c.388-4G>C

1 paper

NM_000214.3

p.T133R

c.398C>G