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.P972S

c.2914C>T

Surrounding Variants

1 paper

NM_000214.3

p.P972A

c.2914C>G

3 papers

NM_000214.3

p.M970_S971delFs

c.2909_2913del5

2 papers

NM_000214.3

p.P972fs

c.2914_2915fs

2 papers

NM_000214.3

p.S971_P972delFs

c.2913_2914delGT

3 papers

NM_000214.3

p.P972_G973Splc

c.2916+1G>C

2 papers

NM_000214.3

p.P972_G973Splc

c.2916+1G>A

1 paper

NM_000214.3

p.P972_G973Splc

c.2916+2T>C

1 paper

NM_000214.3

p.M970fs

c.2908_2909fs

4 papers

NM_000214.3

p.M969T

c.2906T>C

1 paper

NM_000214.3

p.N966_K967delFs

c.2898_2899delTG

1 paper

NM_000214.3

p.F965_K967del0

c.2894_2899del6

2 papers

NM_000214.3

p.K967fs

c.2899_2900fs