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

3 papers

NM_000214.3

p.S707insFs

c.2120dupG

Surrounding Variants

1 paper

NM_000214.3

p.D706_S707delFs

c.2118_2119delTG

10 papers

NM_000214.3

p.Q708fs

c.2122_2123fs

5 papers

NM_000214.3

p.Q708*

c.2122C>T

1 paper

NM_000214.3

p.S707fs

c.2119_2120fs

4 papers

NM_000214.3

p.Q708fs

c.2122_2123fs

1 paper

NM_000214.3

p.C709R

c.2125T>C

2 papers

NM_000214.3

p.C709F

c.2126G>T

4 papers

NM_000214.3

p.R705insFs

c.2115dupT

21 papers

NM_000214.3

p.Q708_C709delFs

c.2122_2125del4

1 paper

NM_000214.3

p.D706fs

c.2116_2117fs

1 paper

NM_000214.3

p.T713insFs

c.2139dupG

1 paper

NM_000214.3

p.C714_N715insCA

c.2140_2144ins6