Varaico: Literature-Extracted Genetic Variants

DLK1

143 papers

RefSeq Summary

This gene encodes a transmembrane protein that contains multiple epidermal growth factor repeats that functions as a regulator of cell growth. The encoded protein is involved in the differentiation of...

Pfam Domains

EGFaa 92–123UCSCEGF-like domain

EGFaa 131–166UCSCEGF-like domain

EGFaa 174–204UCSCEGF-like domain

EGFaa 212–243UCSCEGF-like domain

Gene Aliases

HGNC Name

delta like non-canonical Notch ligand 1

HGNC Alias Symbols

FA1; pG2; Pref-1; ZOG; Delta1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

8 papers

NM_003836.7

p.P270delFs

c.810delT

Surrounding Variants

1 paper

NM_003836.7

p.P270R

c.809C>G

1 paper

NM_003836.7

p.V272fs

c.814_815fs

2 papers

NM_003836.7

p.Q279*

c.835C>T

1 paper

NM_003836.7

p.G261D

c.782G>A

1 paper

NM_003836.7

p.S260R

c.780C>A

1 paper

NM_003836.7

p.S260R

c.780C>G

2 papers

NM_003836.7

p.S260N

c.779G>A

1 paper

NM_003836.7

p.S260R

c.778A>C

1 paper

NM_003836.7

p.E281A

c.842A>C

1 paper

NM_003836.7

p.R257H

c.770G>A

1 paper

NM_003836.7

p.Q253*

c.757C>T

3 papers

NM_003836.7

p.S288_M289insC

c.862_866ins3