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.D376fs

c.1126_1127fs

Surrounding Variants

1 paper

NM_000214.3

p.D376Y

c.1126G>T

1 paper

NM_000214.3

p.D376N

c.1126G>A

3 papers

NM_000214.3

p.D376delFs

c.1126delC

1 paper

NM_000214.3

p.I375fs

c.1123_1124fs

2 papers

NM_000214.3

p.D377Y

c.1129G>T

2 papers

NM_000214.3

p.N374_I375insFs

c.1122_1123insT

2 papers

NM_000214.3

p.N374fs

c.1120_1121fs

1 paper

NM_000214.3

p.N374insFs

c.1121_1122insT

1 paper

NM_000214.3

p.S379fs

c.1135_1136fs

1 paper

NM_000214.3

p.S379F

c.1136C>T

1 paper

NM_000214.3

p.S379C

c.1136C>G

2 papers

NM_000214.3

p.S379insFs

c.1136_1137insT