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.I918fs

c.2752_2753fs

Surrounding Variants

3 papers

NM_000214.3

p.I918delFs

c.2753delA

1 paper

NM_000214.3

p.I918fs

c.2752_2753fs

2 papers

NM_000214.3

p.C917G

c.2749T>G

2 papers

NM_000214.3

p.L921P

c.2762T>C

1 paper

NM_000214.3

p.G907_Q915ins3

c.2721_2744dup24

1 paper

NM_000214.3

p.D922insFs

c.2764dupG

1 paper

NM_000214.3

p.L921_D922delFs

c.2763_2764delCC

4 papers

NM_000214.3

p.D922D

c.2766C>T

6 papers

NM_000214.3

p.D923fs

c.2767_2768fs

2 papers

NM_000214.3

p.G914R

c.2740G>C

2 papers

NM_000214.3

p.G914R

c.2740G>A

2 papers

NM_000214.3

p.D923insFs

c.2767_2768insG