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.C485F

c.1454G>T

Surrounding Variants

1 paper

NM_005618.4

p.S483fs

c.1447_1448fs

1 paper

NM_005618.4

p.S483insFs

c.1447_1448ins5

1 paper

NM_005618.4

p.C478F

c.1433G>T

1 paper

NM_005618.4

p.C478R

c.1432T>C

2 papers

NM_005618.4

p.E498*

c.1492G>T

1 paper

NM_005618.4

p.P470L

c.1409C>T

1 paper

NM_005618.4

p.C467_C469insFs

c.1401_1405dup5

1 paper

NM_005618.4

p.C469fs

c.1405_1406fs

2 papers

NM_005618.4

p.R509*

c.1525C>T

1 paper

NM_005618.4

p.G461G

c.1383C>T

1 paper

NM_005618.4

p.R459Q

c.1376G>A

3 papers

NM_005618.4

p.G512R

c.1534G>C