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.I120I

c.360C>T

Surrounding Variants

1 paper

NM_000214.3

p.I120M

c.360C>G

3 papers

NM_000214.3

p.I120T

c.359T>C

6 papers

NM_000214.3

p.I120N

c.359T>A

2 papers

NM_000214.3

p.R119H

c.356G>A

1 paper

NM_000214.3

p.L122M

c.364C>A

1 paper

NM_000214.3

p.L122P

c.365T>C

1 paper

NM_000214.3

p.V121_L122delFs

c.363_364delGC

1 paper

NM_000214.3

p.R119C

c.355C>T

3 papers

NM_000214.3

p.P123S

c.367C>T

1 paper

NM_000214.3

p.P123L

c.368C>T

2 papers

NM_000214.3

p.R117G

c.349C>G

1 paper

NM_000214.3

p.D116E

c.348C>G