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

1–12 of 170 variants

5 papers

NM_005618.4

p.D601_I602del1

c.1802_1804delTGT

3 papers

NM_005618.4

p.D446N

c.1336G>A

3 papers

NM_005618.4

p.G512R

c.1534G>C

3 papers

NM_005618.4

p.G512R

c.1534G>A

3 papers

NM_005618.4

p.S706L

c.2117C>T

2 papers

NM_005618.4

p.P51L

c.152C>T

2 papers

NM_005618.4

p.C77*

c.231C>A

2 papers

NM_005618.4

p.C179F

c.536G>T

2 papers

NM_005618.4

p.G185*

c.553G>T

2 papers

NM_005618.4

p.G185R

c.553G>C

2 papers

NM_005618.4

p.H201delFs

c.601_602delTG

2 papers

NM_005618.4

p.P224S

c.670C>T