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.Q236*

c.706C>T

Surrounding Variants

1 paper

NM_000214.3

p.Q236_G237insG

c.706_710ins3

1 paper

NM_000214.3

p.Q236L

c.707A>T

1 paper

NM_000214.3

p.R235insFs

c.704dupG

4 papers

NM_000214.3

p.R235Q

c.704G>A

1 paper

NM_000214.3

p.Q236Q

c.708A>G

2 papers

NM_000214.3

p.G237S

c.709G>A

1 paper

NM_000214.3

p.Q236delFs

c.707delT

16 papers

NM_000214.3

p.R235*

c.703C>T

1 paper

NM_000214.3

p.C234C

c.702C>T

4 papers

NM_000214.3

p.C234*

c.702C>A

2 papers

NM_000214.3

p.C234delFs

c.701delC

1 paper

NM_000214.3

p.C234S

c.701G>C