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.G159D

c.476G>A

Surrounding Variants

1 paper

NM_000214.3

p.G159V

c.476G>T

1 paper

NM_000214.3

p.S158S

c.474G>C

1 paper

NM_000214.3

p.S158S

c.474G>A

1 paper

NM_000214.3

p.M160K

c.479T>A

1 paper

NM_000214.3

p.S158W

c.473C>G

4 papers

NM_000214.3

p.S158*

c.473C>A

1 paper

NM_000214.3

p.H157insFs

c.469_470insCT

1 paper

NM_000214.3

p.S156S

c.468T>C

1 paper

NM_000214.3

p.N162fs

c.484_485fs

2 papers

NM_000214.3

p.I161delFs

c.483delG

1 paper

NM_000214.3

p.S156insFs

c.467_468insT

1 paper

NM_000214.3

p.S156P

c.466T>C