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.R598H

c.1793G>A

Surrounding Variants

1 paper

NM_005618.4

p.K600R

c.1799A>G

5 papers

NM_005618.4

p.D601_I602del1

c.1802_1804delTGT

2 papers

NM_005618.4

p.D601_I602del2

c.1801_1805del6

1 paper

NM_005618.4

p.S605T

c.1814G>C

1 paper

NM_005618.4

p.C583del1

c.1747_1748delGCA

1 paper

NM_005618.4

p.K613R

c.1838A>G

2 papers

NM_005618.4

p.C583R

c.1747T>C

1 paper

NM_005618.4

p.T615del1

c.1843_1844delGGT

1 paper

NM_005618.4

p.K617R

c.1850A>G

1 paper

NM_005618.4

p.K618R

c.1853A>G

1 paper

NM_005618.4

p.R577Q

c.1730G>A

1 paper

NM_005618.4

p.K575R

c.1724A>G