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

15 papers

NM_000214.3

p.V45L

c.133G>T

Surrounding Variants

13 papers

NM_000214.3

p.V45L

c.133G>C

2 papers

NM_000214.3

p.V45G

c.134T>G

1 paper

NM_000214.3

p.F35_V45del11

c.103_134del33

1 paper

NM_000214.3

p.N46T

c.137A>C

2 papers

NM_000214.3

p.N46K

c.138C>G

2 papers

NM_000214.3

p.N46K

c.138C>A

1 paper

NM_000214.3

p.Q43R

c.128A>G

1 paper

NM_000214.3

p.G47R

c.139G>C

1 paper

NM_000214.3

p.G47R

c.139G>A

1 paper

NM_000214.3

p.G47fs

c.139_140fs

8 papers

NM_000214.3

p.Q43*

c.127C>T

1 paper

NM_000214.3

p.G47insFs

c.139_140ins4