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

2 papers

NM_000214.3

p.Q955*

c.2863C>T

Surrounding Variants

1 paper

NM_000214.3

p.Q955Q

c.2865G>A

1 paper

NM_000214.3

p.D956delFs

c.2867delT

1 paper

NM_000214.3

p.Y953H

c.2857T>C

1 paper

NM_000214.3

p.S952Y

c.2855C>A

1 paper

NM_000214.3

p.D951fs

c.2851_2852fs

1 paper

NM_000214.3

p.C958fs

c.2872_2873fs

4 papers

NM_000214.3

p.S950delFs

c.2850delA

1 paper

NM_000214.3

p.S950delFs

c.2849_2850delAG

3 papers

NM_000214.3

p.A959fs

c.2875_2876fs

3 papers

NM_000214.3

p.D951fs

c.2851_2852fs

4 papers

NM_000214.3

p.C958_A959delFs

c.2874_2875delCA

1 paper

NM_000214.3

p.T949delFs

c.2845delT