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.T767R

c.2300C>G

Surrounding Variants

1 paper

NM_000214.3

p.T767M

c.2300C>T

3 papers

NM_000214.3

p.C768*

c.2304C>A

1 paper

NM_000214.3

p.C768_V769Fs

c.2304_2305delinsTFs

1 paper

NM_000214.3

p.V769fs

c.2305_2306fs

1 paper

NM_000214.3

p.C770delFs

c.2309_2310delGC

2 papers

NM_000214.3

p.K771R

c.2312A>G

2 papers

NM_000214.3

p.G763insFs

c.2287_2288ins4

1 paper

NM_000214.3

p.G763S

c.2287G>A

1 paper

NM_000214.3

p.G763fs

c.2287_2288fs

1 paper

NM_000214.3

p.E772fs

c.2314_2315fs

2 papers

NM_000214.3

p.E772delFs

c.2314delC

2 papers

NM_000214.3

p.V760delFs

c.2279_2280delCA