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.R85R

c.255C>T

Surrounding Variants

1 paper

NM_000214.3

p.V86F

c.256G>T

4 papers

NM_000214.3

p.V86L

c.256G>C

1 paper

NM_000214.3

p.V86D

c.257T>A

1 paper

NM_000214.3

p.R85C

c.253C>T

2 papers

NM_000214.3

p.T87R

c.260C>G

1 paper

NM_000214.3

p.T87T

c.261G>C

1 paper

NM_000214.3

p.T87T

c.261G>A

1 paper

NM_000214.3

p.A88S

c.262G>T

2 papers

NM_000214.3

p.A88T

c.262G>A

2 papers

NM_000214.3

p.Q83R

c.248A>G

1 paper

NM_000214.3

p.A88V

c.263C>T

1 paper

NM_000214.3

p.Q83*

c.247C>T