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.G934Fs

c.2801_2802delinsTFs

Surrounding Variants

1 paper

NM_000214.3

p.E935*

c.2803G>T

1 paper

NM_000214.3

p.G934A

c.2801G>C

1 paper

NM_000214.3

p.E935K

c.2803G>A

1 paper

NM_000214.3

p.E935fs

c.2803_2804fs

1 paper

NM_000214.3

p.V933_G934Fs

c.2797_2800delinsCGTCCTGCACTFs

3 papers

NM_000214.3

p.G934fs

c.2800_2801fs

2 papers

NM_000214.3

p.V933insFs

c.2798dupT

1 paper

NM_000214.3

p.E935fs

c.2803_2804fs

2 papers

NM_000214.3

p.C936G

c.2806T>G

2 papers

NM_000214.3

p.C936Y

c.2807G>A

1 paper

NM_000214.3

p.V933fs

c.2797_2798fs

1 paper

NM_000214.3

p.R937G

c.2809C>G