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.R252R

c.754A>C

Surrounding Variants

3 papers

NM_000214.3

p.R252G

c.754A>G

3 papers

NM_000214.3

p.R252K

c.755G>A

1 paper

NM_000214.3

p.R252delFs

c.754delT

3 papers

NM_000214.3

p.C251*

c.753C>A

1 paper

NM_000214.3

p.R252Splc

c.755+1G>A

3 papers

NM_000214.3

p.R252Splc

c.755+2T>G

2 papers

NM_000214.3

p.R252Splc

c.755+2T>A

1 paper

NM_000214.3

p.D250E

c.750C>G

1 paper

NM_000214.3

p.L247_G249delFs

c.739_746del8

1 paper

NM_000214.3

p.P248P

c.744A>T

7 papers

NM_000214.3

p.P248P

c.744A>G

1 paper

NM_000214.3

p.P248delFs

c.743delG