Varaico: Literature-Extracted Genetic Variants

JAG2

145 papers

RefSeq Summary

The Notch signaling pathway is an intercellular signaling mechanism that is essential for proper embryonic development. Members of the Notch gene family encode transmembrane receptors that are critica...

Pfam Domains

MNNLaa 27–196UCSCN terminus of Notch ligand C2-like domain

DSLaa 198–243UCSCDelta serrate ligand

EGF_DL_JAGaa 283–308UCSCDelta-like/Jagged, EGF-like domain

EGFaa 311–343UCSCEGF-like domain

EGFaa 351–381UCSCEGF-like domain

EGFaa 389–419UCSCEGF-like domain

Gene Aliases

HGNC Name

jagged canonical Notch ligand 2

HGNC Previous Name

jagged 2

Papers

RefSeq ID

Protein change

DNA change

1–12 of 217 variants

4 papers

NM_002226.5

p.E501K

c.1501G>A

3 papers

NM_002226.5

p.D538N

c.1612G>A

3 papers

NM_002226.5

p.M597I

c.1791G>T

3 papers

NM_002226.5

p.M597I

c.1791G>C

3 papers

NM_002226.5

p.M597I

c.1791G>A

2 papers

NM_002226.5

p.A23T

c.67G>A

2 papers

NM_002226.5

p.G112A

c.335G>C

2 papers

NM_002226.5

p.W235R

c.703T>C

2 papers

NM_002226.5

p.W235R

c.703T>A

2 papers

NM_002226.5

p.E261K

c.781G>A

2 papers

NM_002226.5

p.G267S

c.799G>A

2 papers

NM_002226.5

p.G338D

c.1013G>A