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.Y82C

c.245A>G

Surrounding Variants

1 paper

NM_000214.3

p.Y82F

c.245A>T

1 paper

NM_000214.3

p.C71_E81del11

c.211_242del33

2 papers

NM_000214.3

p.Y82*

c.246T>G

2 papers

NM_000214.3

p.Y82*

c.246T>A

1 paper

NM_000214.3

p.E81D

c.243G>T

1 paper

NM_000214.3

p.E81D

c.243G>C

1 paper

NM_000214.3

p.Q83*

c.247C>T

2 papers

NM_000214.3

p.E81V

c.242A>T

2 papers

NM_000214.3

p.Q83R

c.248A>G

1 paper

NM_000214.3

p.E81*

c.241G>T

1 paper

NM_000214.3

p.F75_K80insFs

c.224_240dup17

2 papers

NM_000214.3

p.K80fs

c.238_239fs