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.Y190*

c.570C>G

Surrounding Variants

1 paper

NM_000214.3

p.Y190*

c.570C>A

2 papers

NM_000214.3

p.Y191H

c.571T>C

1 paper

NM_000214.3

p.Y190D

c.568T>G

1 paper

NM_000214.3

p.Y181_Y190insFs

c.543_570dup28

1 paper

NM_000214.3

p.Y191Y

c.573C>T

3 papers

NM_000214.3

p.Y191*

c.573C>G

3 papers

NM_000214.3

p.Y191*

c.573C>A

1 paper

NM_000214.3

p.Y192H

c.574T>C

2 papers

NM_000214.3

p.D189G

c.566A>G

2 papers

NM_000214.3

p.D189N

c.565G>A

2 papers

NM_000214.3

p.C187_D188del2

c.559_563del6

3 papers

NM_000214.3

p.Y192C

c.575A>G