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.C212R

c.634T>C

Surrounding Variants

4 papers

NM_000214.3

p.C212S

c.634T>A

4 papers

NM_000214.3

p.C212S

c.635G>C

1 paper

NM_000214.3

p.R203_A211del0

c.609_632del24

1 paper

NM_000214.3

p.C212C

c.636T>C

1 paper

NM_000214.3

p.A211_C212insT

c.631_635ins3

3 papers

NM_000214.3

p.A211P

c.631G>C

1 paper

NM_000214.3

p.A211T

c.631G>A

1 paper

NM_000214.3

p.Y210Y

c.630T>C

1 paper

NM_000214.3

p.Y210S

c.629A>C

4 papers

NM_000214.3

p.H209Q

c.627C>G

4 papers

NM_000214.3

p.H209Q

c.627C>A

1 paper

NM_000214.3

p.Q214Q

c.642G>A