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

4 papers

NM_000214.3

p.W735*

c.2205G>A

Surrounding Variants

5 papers

NM_000214.3

p.W735*

c.2204G>A

1 paper

NM_000214.3

p.G733_G734delFs

c.2198_2202del5

1 paper

NM_000214.3

p.G737fs

c.2209_2210fs

1 paper

NM_000214.3

p.G737Fs

c.2209_2210delinsAFs

1 paper

NM_000214.3

p.G737delFs

c.2210delC

6 papers

NM_000214.3

p.T738T

c.2214A>C

6 papers

NM_000214.3

p.C740R

c.2218T>C

1 paper

NM_000214.3

p.C740fs

c.2218_2219fs

5 papers

NM_000214.3

p.C731S

c.2192G>C

1 paper

NM_000214.3

p.C731Y

c.2192G>A

5 papers

NM_000214.3

p.C731S

c.2191T>A

2 papers

NM_000214.3

p.C740delFs

c.2219delC