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

2 papers

NM_000214.3

p.R117G

c.349C>G

Surrounding Variants

1 paper

NM_000214.3

p.D116E

c.348C>G

1 paper

NM_000214.3

p.D116V

c.347A>T

1 paper

NM_000214.3

p.R119C

c.355C>T

1 paper

NM_000214.3

p.N115D

c.343A>G

2 papers

NM_000214.3

p.R119H

c.356G>A

1 paper

NM_000214.3

p.G114G

c.342C>A

1 paper

NM_000214.3

p.G114delFs

c.341delC

1 paper

NM_000214.3

p.G114D

c.341G>A

1 paper

NM_000214.3

p.G114R

c.340G>C

3 papers

NM_000214.3

p.I120T

c.359T>C

6 papers

NM_000214.3

p.I120N

c.359T>A

1 paper

NM_000214.3

p.R113fs

c.337_338fs