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.I39F

c.115A>T

Surrounding Variants

2 papers

NM_000214.3

p.I39S

c.116T>G

1 paper

NM_000214.3

p.I39T

c.116T>C

1 paper

NM_000214.3

p.I39N

c.116T>A

1 paper

NM_000214.3

p.I39I

c.117C>A

2 papers

NM_000214.3

p.L40P

c.119T>C

1 paper

NM_000214.3

p.L40delFs

c.118delG

1 paper

NM_000214.3

p.L37F

c.111G>T

1 paper

NM_000214.3

p.L37L

c.111G>A

14 papers

NM_000214.3

p.L37S

c.110T>C

1 paper

NM_000214.3

p.L40fs

c.118_119fs

1 paper

NM_000214.3

p.L40L

c.120G>C

1 paper

NM_000214.3

p.L40delFs

c.120delC