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

3 papers

NM_000214.3

p.C748R

c.2242T>C

Surrounding Variants

1 paper

NM_000214.3

p.C748G

c.2242T>G

1 paper

NM_000214.3

p.S747fs

c.2239_2240fs

2 papers

NM_000214.3

p.S747insFs

c.2239_2240insA

1 paper

NM_000214.3

p.S747fs

c.2239_2240fs

1 paper

NM_000214.3

p.S746fs

c.2236_2237fs

2 papers

NM_000214.3

p.S746delFs

c.2236_2237delCT

1 paper

NM_000214.3

p.S746G

c.2236A>G

1 paper

NM_000214.3

p.P750fs

c.2248_2249fs

2 papers

NM_000214.3

p.N751fs

c.2251_2252fs

3 papers

NM_000214.3

p.P750_N751insFs

c.2250_2251insC

2 papers

NM_000214.3

p.P750delFs

c.2250delG

1 paper

NM_000214.3

p.R744P

c.2231G>C