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.G195fs

c.583_584fs

Surrounding Variants

2 papers

NM_000214.3

p.F194insFs

c.582dupT

1 paper

NM_000214.3

p.G195fs

c.583_584fs

5 papers

NM_000214.3

p.C196Y

c.587G>A

10 papers

NM_000214.3

p.C196C

c.588C>T

3 papers

NM_000214.3

p.C196*

c.588C>A

1 paper

NM_000214.3

p.N197Y

c.589A>T

1 paper

NM_000214.3

p.N197S

c.590A>G

3 papers

NM_000214.3

p.Y192C

c.575A>G

1 paper

NM_000214.3

p.Y192H

c.574T>C

1 paper

NM_000214.3

p.K198Q

c.592A>C

1 paper

NM_000214.3

p.Y191Y

c.573C>T

3 papers

NM_000214.3

p.Y191*

c.573C>G