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.S940fs

c.2818_2819fs

Surrounding Variants

2 papers

NM_000214.3

p.L941fs

c.2821_2822fs

1 paper

NM_000214.3

p.S940fs

c.2818_2819fs

2 papers

NM_000214.3

p.S940insFs

c.2818_2819ins8

4 papers

NM_000214.3

p.Q942*

c.2824C>T

3 papers

NM_000214.3

p.S940_Q942delFs

c.2820_2826del7

6 papers

NM_000214.3

p.P943L

c.2828C>T

16 papers

NM_000214.3

p.R937Q

c.2810G>A

1 paper

NM_000214.3

p.V944fs

c.2830_2831fs

1 paper

NM_000214.3

p.V944insFs

c.2830dupG

1 paper

NM_000214.3

p.R937G

c.2809C>G

1 paper

NM_000214.3

p.V944fs

c.2830_2831fs

2 papers

NM_000214.3

p.L941_V944delFs

c.2821_2831del11