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.A232delFs

c.695_696delAG

Surrounding Variants

1 paper

NM_000214.3

p.A232A

c.696T>C

1 paper

NM_000214.3

p.A232fs

c.694_695fs

2 papers

NM_000214.3

p.C234G

c.700T>G

1 paper

NM_000214.3

p.C234S

c.700T>A

1 paper

NM_000214.3

p.A232Splc

c.695-1G>C

1 paper

NM_000214.3

p.A232Splc

c.695-1G>A

2 papers

NM_000214.3

p.C234fs

c.700_701fs

1 paper

NM_000214.3

p.C234S

c.701G>C

8 papers

NM_000214.3

p.C234Y

c.701G>A

1 paper

NM_000214.3

p.I233_C234delFs

c.699_700delAA

4 papers

NM_000214.3

p.A232Splc

c.695-2A>G

1 paper

NM_000214.3

p.A232Splc

c.695-2A>C