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

20 papers

NM_000214.3

p.R184C

c.550C>T

Surrounding Variants

8 papers

NM_000214.3

p.R184G

c.550C>G

5 papers

NM_000214.3

p.R184L

c.551G>T

38 papers

NM_000214.3

p.R184H

c.551G>A

2 papers

NM_000214.3

p.I183N

c.548T>A

1 paper

NM_000214.3

p.R184R

c.552C>T

1 paper

NM_000214.3

p.V185G

c.554T>G

1 paper

NM_000214.3

p.V185A

c.554T>C

1 paper

NM_000214.3

p.V185E

c.554T>A

1 paper

NM_000214.3

p.Q182H

c.546G>T

1 paper

NM_000214.3

p.Q182H

c.546G>C

2 papers

NM_000214.3

p.Q182R

c.545A>G

1 paper

NM_000214.3

p.T186P

c.556A>C