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.W167R

c.499T>A

Surrounding Variants

3 papers

NM_000214.3

p.W167R

c.499T>C

1 paper

NM_000214.3

p.W167*

c.500G>A

1 paper

NM_000214.3

p.W167*

c.501G>A

4 papers

NM_000214.3

p.Q166*

c.496C>T

1 paper

NM_000214.3

p.Q166K

c.496C>A

1 paper

NM_000214.3

p.Q168L

c.503A>T

1 paper

NM_000214.3

p.R165Q

c.494G>A

2 papers

NM_000214.3

p.R165W

c.493C>T

1 paper

NM_000214.3

p.R165G

c.493C>G

1 paper

NM_000214.3

p.T169A

c.505A>G

3 papers

NM_000214.3

p.T169M

c.506C>T

1 paper

NM_000214.3

p.S164T

c.491G>C