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.K728*

c.2182A>T

Surrounding Variants

2 papers

NM_000214.3

p.C729F

c.2186G>T

1 paper

NM_000214.3

p.M730V

c.2188A>G

2 papers

NM_000214.3

p.D725_A726insFs

c.2175_2176insA

1 paper

NM_000214.3

p.M730T

c.2189T>C

2 papers

NM_000214.3

p.D725insFs

c.2173dupG

2 papers

NM_000214.3

p.D725delFs

c.2173delC

5 papers

NM_000214.3

p.C731S

c.2191T>A

2 papers

NM_000214.3

p.D725fs

c.2173_2174fs

5 papers

NM_000214.3

p.C731S

c.2192G>C

1 paper

NM_000214.3

p.C731Y

c.2192G>A

1 paper

NM_000214.3

p.G724R

c.2170G>C

1 paper

NM_000214.3

p.G724R

c.2170G>A