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.W139_D140ins4

c.415_419ins12

Surrounding Variants

1 paper

NM_000214.3

p.W139G

c.415T>G

1 paper

NM_000214.3

p.W139fs

c.415_416fs

1 paper

NM_000214.3

p.W139S

c.416G>C

1 paper

NM_000214.3

p.A138A

c.414G>A

4 papers

NM_000214.3

p.A138_W139insFs

c.414_415dupGT

6 papers

NM_000214.3

p.A138V

c.413C>T

1 paper

NM_000214.3

p.D140N

c.418G>A

3 papers

NM_000214.3

p.E137delFs

c.410delT

4 papers

NM_000214.3

p.D140A

c.419A>C

1 paper

NM_000214.3

p.A138_D140delFs

c.414_418del5

1 paper

NM_000214.3

p.E137insFs

c.409dupG

1 paper

NM_000214.3

p.E137*

c.409G>T