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

6 papers

NM_000214.3

p.W280*

c.840G>A

Surrounding Variants

2 papers

NM_000214.3

p.W280insFs

c.838_839dupTG

6 papers

NM_000214.3

p.W280*

c.839G>A

4 papers

NM_000214.3

p.Q281*

c.841C>T

1 paper

NM_000214.3

p.C276_W280del5

c.826_839del15

1 paper

NM_000214.3

p.W280G

c.838T>G

2 papers

NM_000214.3

p.W280fs

c.838_839fs

1 paper

NM_000214.3

p.P279P

c.837C>A

2 papers

NM_000214.3

p.C282Y

c.845G>A

1 paper

NM_000214.3

p.P279S

c.835C>T

4 papers

NM_000214.3

p.E278D

c.834G>T

4 papers

NM_000214.3

p.E278D

c.834G>C

1 paper

NM_000214.3

p.N277N

c.831T>C