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.I778T

c.2333T>C

Surrounding Variants

4 papers

NM_000214.3

p.I778fs

c.2332_2333fs

1 paper

NM_000214.3

p.P777L

c.2330C>T

1 paper

NM_000214.3

p.A780fs

c.2338_2339fs

2 papers

NM_000214.3

p.A780insFs

c.2339_2340insTG

1 paper

NM_000214.3

p.E775delFs

c.2323_2324delTC

1 paper

NM_000214.3

p.A780delFs

c.2340delA

2 papers

NM_000214.3

p.E775*

c.2323G>T

4 papers

NM_000214.3

p.I778_Q781delFs

c.2332_2342del11

2 papers

NM_000214.3

p.E772delFs

c.2314delC

1 paper

NM_000214.3

p.E772fs

c.2314_2315fs

2 papers

NM_000214.3

p.K771R

c.2312A>G

1 paper

NM_000214.3

p.C770delFs

c.2309_2310delGC