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.G259S

c.775G>A

Surrounding Variants

2 papers

NM_000214.3

p.G259V

c.776G>T

1 paper

NM_000214.3

p.G259D

c.776G>A

2 papers

NM_000214.3

p.Q258*

c.772C>T

1 paper

NM_000214.3

p.Q258E

c.772C>G

1 paper

NM_000214.3

p.L260P

c.779T>C

1 paper

NM_000214.3

p.W257C

c.771G>T

1 paper

NM_000214.3

p.W257C

c.771G>C

4 papers

NM_000214.3

p.W257*

c.771G>A

2 papers

NM_000214.3

p.W257*

c.770G>A

1 paper

NM_000214.3

p.Y261*

c.783C>G

1 paper

NM_000214.3

p.Y261*

c.783C>A

1 paper

NM_000214.3

p.Y261delFs

c.783delG