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.T67P

c.199A>C

Surrounding Variants

1 paper

NM_000214.3

p.T67S

c.199A>T

2 papers

NM_000214.3

p.T67A

c.199A>G

1 paper

NM_000214.3

p.T67S

c.200C>G

1 paper

NM_000214.3

p.C66Y

c.197G>A

1 paper

NM_000214.3

p.R68C

c.202C>T

2 papers

NM_000214.3

p.R68G

c.202C>G

1 paper

NM_000214.3

p.C66_T67del2

c.196_200del6

1 paper

NM_000214.3

p.R68P

c.203G>C

1 paper

NM_000214.3

p.R68H

c.203G>A

1 paper

NM_000214.3

p.R68R

c.204C>T

4 papers

NM_000214.3

p.K65M

c.194A>T

1 paper

NM_000214.3

p.K65R

c.194A>G