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.Q147Splc

c.439+5G>A

Surrounding Variants

1 paper

NM_000214.3

p.Q147Splc

c.439+6T>C

3 papers

NM_000214.3

p.Q147Splc

c.439+6T>A

3 papers

NM_000214.3

p.Q147Splc

c.439+1G>T

4 papers

NM_000214.3

p.Q147Splc

c.439+1G>C

18 papers

NM_000214.3

p.Q147Splc

c.439+1G>A

11 papers

NM_000214.3

p.Q147*

c.439C>T

1 paper

NM_000214.3

p.V146fs

c.436_437fs

1 paper

NM_000214.3

p.V146G

c.437T>G

1 paper

NM_000214.3

p.V146fs

c.436_437fs

2 papers

NM_000214.3

p.V146I

c.436G>A

1 paper

NM_000214.3

p.D144_T145del1

c.432_434delGTG

1 paper

NM_000214.3

p.T145T

c.435C>T