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

3 papers

NM_000214.3

p.Q403fs

c.1207_1208fs

Surrounding Variants

6 papers

NM_000214.3

p.Q403*

c.1207C>T

1 paper

NM_000214.3

p.P402insFs

c.1206dupA

5 papers

NM_000214.3

p.P402insFs

c.1205dupC

1 paper

NM_000214.3

p.Q403insFs

c.1207_1208insC

1 paper

NM_000214.3

p.P402fs

c.1204_1205fs

3 papers

NM_000214.3

p.P402delFs

c.1205delG

4 papers

NM_000214.3

p.Q403_W404insFs

c.1209_1210ins40

2 papers

NM_000214.3

p.P402fs

c.1204_1205fs

2 papers

NM_000214.3

p.W404*

c.1211G>A

2 papers

NM_000214.3

p.W404*

c.1212G>A

2 papers

NM_000214.3

p.T405fs

c.1213_1214fs

1 paper

NM_000214.3

p.P401A

c.1201C>G