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.H908Q

c.2724C>A

Surrounding Variants

2 papers

NM_000214.3

p.H908Q

c.2724C>G

1 paper

NM_000214.3

p.S909insFs

c.2726_2727insC

1 paper

NM_000214.3

p.H908Y

c.2722C>T

1 paper

NM_000214.3

p.E910*

c.2728G>T

1 paper

NM_000214.3

p.G907E

c.2720G>A

4 papers

NM_000214.3

p.E910insFs

c.2729dupA

5 papers

NM_000214.3

p.C911fs

c.2731_2732fs

1 paper

NM_000214.3

p.H905delFs

c.2714_2715delGT

1 paper

NM_000214.3

p.C911F

c.2732G>T

2 papers

NM_000214.3

p.C911insFs

c.2731dupT

5 papers

NM_000214.3

p.C911Y

c.2732G>A

1 paper

NM_000214.3

p.C911*

c.2733C>A