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.Q34fs

c.100_101fs

Surrounding Variants

7 papers

NM_000214.3

p.Q34*

c.100C>T

1 paper

NM_000214.3

p.G33_Q34insFs

c.99_100insT

1 paper

NM_000214.3

p.A31_G33delFs

c.92_98del7

1 paper

NM_000214.3

p.Q34R

c.101A>G

5 papers

NM_000214.3

p.G33V

c.98G>T

6 papers

NM_000214.3

p.G33D

c.98G>A

2 papers

NM_000214.3

p.F35L

c.103T>C

1 paper

NM_000214.3

p.G33_Q34del2

c.97_101del6

3 papers

NM_000214.3

p.G33R

c.97G>C

5 papers

NM_000214.3

p.G33S

c.97G>A

3 papers

NM_000214.3

p.F35S

c.104T>C

2 papers

NM_000214.3

p.Q34_F35delFs

c.100_103del4