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.N374_G386delFs

c.1121_1157del37

Surrounding Variants

1 paper

NM_000214.3

p.G386V

c.1157G>T

1 paper

NM_000214.3

p.G387ins1

c.1160_1161insTTT

1 paper

NM_000214.3

p.G387ins1

c.1160_1161insAGT

16 papers

NM_000214.3

p.G386R

c.1156G>C

18 papers

NM_000214.3

p.G386R

c.1156G>A

1 paper

NM_000214.3

p.H385H

c.1155C>T

1 paper

NM_000214.3

p.G387insFs

c.1160dupG

2 papers

NM_000214.3

p.G387fs

c.1159_1160fs

2 papers

NM_000214.3

p.G387delFs

c.1160delC

1 paper

NM_000214.3

p.T388fs

c.1162_1163fs

1 paper

NM_000214.3

p.H385delFs

c.1153delG

1 paper

NM_000214.3

p.S384_G387del4

c.1150_1160del12