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

2 papers

NM_000214.3

p.C271W

c.813C>G

Surrounding Variants

4 papers

NM_000214.3

p.V272F

c.814G>T

2 papers

NM_000214.3

p.V272L

c.814G>C

2 papers

NM_000214.3

p.V272I

c.814G>A

1 paper

NM_000214.3

p.C271Y

c.812G>A

5 papers

NM_000214.3

p.C271R

c.811T>C

1 paper

NM_000214.3

p.V272D

c.815T>A

1 paper

NM_000214.3

p.H273Y

c.817C>T

1 paper

NM_000214.3

p.H273fs

c.817_818fs

2 papers

NM_000214.3

p.G270*

c.808G>T

1 paper

NM_000214.3

p.H273insFs

c.817dupC

1 paper

NM_000214.3

p.I266_V272del0

c.797_814del18

1 paper

NM_000214.3

p.P269P

c.807G>C