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.P269L

c.806C>T

Surrounding Variants

4 papers

NM_000214.3

p.P269R

c.806C>G

1 paper

NM_000214.3

p.P269P

c.807G>C

3 papers

NM_000214.3

p.P269S

c.805C>T

2 papers

NM_000214.3

p.G270*

c.808G>T

6 papers

NM_000214.3

p.H268Q

c.804C>G

6 papers

NM_000214.3

p.H268Q

c.804C>A

4 papers

NM_000214.3

p.H268delFs

c.802delG

1 paper

NM_000214.3

p.H268Y

c.802C>T

4 papers

NM_000214.3

p.H268fs

c.802_803fs

5 papers

NM_000214.3

p.C271R

c.811T>C

1 paper

NM_000214.3

p.C271Y

c.812G>A

1 paper

NM_000214.3

p.P267L

c.800C>T