Varaico: Literature-Extracted Genetic Variants

DLL1

148 papers

RefSeq Summary

DLL1 is a human homolog of the Notch Delta ligand and is a member of the delta/serrate/jagged family. It plays a role in mediating cell fate decisions during hematopoiesis. It may play a role in cell...

Pfam Domains

MNNLaa 22–177UCSCN terminus of Notch ligand C2-like domain

DSLaa 179–224UCSCDelta serrate ligand

EGF_DL_JAGaa 264–289UCSCDelta-like/Jagged, EGF-like domain

EGFaa 285–324UCSCEGF-like domain

EGFaa 332–361UCSCEGF-like domain

EGFaa 370–399UCSCEGF-like domain

Gene Aliases

HGNC Name

delta like canonical Notch ligand 1

HGNC Previous Names

delta (Drosophila)-like 1; delta-like 1 (Drosophila)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005618.4

p.C431fs

c.1291_1292fs

Surrounding Variants

1 paper

NM_005618.4

p.C431Fs

c.1291delinsTGFs

2 papers

NM_005618.4

p.C431insFs

c.1291dupT

2 papers

NM_005618.4

p.C431fs

c.1291_1292fs

1 paper

NM_005618.4

p.R430_C431insFs

c.1290_1291insT

2 papers

NM_005618.4

p.R430H

c.1289G>A

1 paper

NM_005618.4

p.G434S

c.1300G>A

1 paper

NM_005618.4

p.C429R

c.1285T>C

1 paper

NM_005618.4

p.S436L

c.1307C>T

1 paper

NM_005618.4

p.D422E

c.1266C>G

1 paper

NM_005618.4

p.D422E

c.1266C>A

1 paper

NM_005618.4

p.V444M

c.1330G>A

3 papers

NM_005618.4

p.D446N

c.1336G>A