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.C265F

c.794G>T

Surrounding Variants

1 paper

NM_000214.3

p.D263_K264del1

c.789_791delTTA

1 paper

NM_000214.3

p.I266I

c.798C>T

2 papers

NM_000214.3

p.C262_D263delFs

c.785_789del5

1 paper

NM_000214.3

p.P267L

c.800C>T

1 paper

NM_000214.3

p.D263V

c.788A>T

1 paper

NM_000214.3

p.C262C

c.786T>C

1 paper

NM_000214.3

p.C262*

c.786T>A

1 paper

NM_000214.3

p.H268Y

c.802C>T

4 papers

NM_000214.3

p.H268fs

c.802_803fs

1 paper

NM_000214.3

p.C262Y

c.785G>A

4 papers

NM_000214.3

p.H268delFs

c.802delG

1 paper

NM_000214.3

p.Y261delFs

c.783delG