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.M866V

c.2596A>G

Surrounding Variants

1 paper

NM_000214.3

p.M866I

c.2598G>C

1 paper

NM_000214.3

p.I864fs

c.2590_2591fs

2 papers

NM_000214.3

p.S868fs

c.2602_2603fs

1 paper

NM_000214.3

p.I864fs

c.2590_2591fs

4 papers

NM_000214.3

p.G867insFs

c.2601dupG

3 papers

NM_000214.3

p.G867insFs

c.2600_2601dupGG

1 paper

NM_000214.3

p.P862_C863insFs

c.2586_2589dup4

1 paper

NM_000214.3

p.C863fs

c.2587_2588fs

1 paper

NM_000214.3

p.G867_S868delFs

c.2601_2602delTC

3 papers

NM_000214.3

p.C863insFs

c.2587dupT

1 paper

NM_000214.3

p.C863delFs

c.2587delA

3 papers

NM_000214.3

p.C863insFs

c.2587_2588insG