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

1–12 of 2278 variants

38 papers

NM_000214.3

p.R184H

c.551G>A

29 papers

NM_000214.3

p.G274D

c.821G>A

21 papers

NM_000214.3

p.Q708_C709delFs

c.2122_2125del4

21 papers

NM_000214.3

p.P871R

c.2612C>G

20 papers

NM_000214.3

p.R184C

c.550C>T

18 papers

NM_000214.3

p.Q147Splc

c.439+1G>A

18 papers

NM_000214.3

p.G386R

c.1156G>A

18 papers

NM_000214.3

p.R744*

c.2230C>T

16 papers

NM_000214.3

p.R235*

c.703C>T

16 papers

NM_000214.3

p.G386R

c.1156G>C

16 papers

NM_000214.3

p.R937Q

c.2810G>A

15 papers

NM_000214.3

p.V45L

c.133G>T