Varaico: Literature-Extracted Genetic Variants

DKK1

160 papers

RefSeq Summary

This gene encodes a member of the dickkopf family of proteins. Members of this family are secreted proteins characterized by two cysteine-rich domains that mediate protein-protein interactions. The en...

Pfam Domains

Dickkopf_Naa 84–139UCSCDickkopf N-terminal cysteine-rich region

DIKK1-2-4_C-subdom1aa 185–214UCSCDickkopf-related protein 1/2/4, C-terminal subdomain 1

DIKK1-2-4_C-subdom2aa 217–266UCSCDickkopf-related protein 1/2/4, C-terminal subdomain 2

Gene Aliases

HGNC Name

dickkopf Wnt signaling pathway inhibitor 1

HGNC Alias Symbols

SK; DKK-1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_012242.4

p.G183Splc

c.548-4G>T

Surrounding Variants

3 papers

NM_012242.4

p.G183Splc

c.548-3T>C

1 paper

NM_012242.4

p.R191Q

c.572G>A

2 papers

NM_012242.4

p.G183Splc

c.548-43A>G

1 paper

NM_012242.4

p.R203delFs

c.607_608delAG

1 paper

NM_012242.4

p.R203fs

c.607_608fs

2 papers

NM_012242.4

p.S207Y

c.620C>A

2 papers

NM_012242.4

p.K211E

c.631A>G

1 paper

NM_012242.4

p.Y179F

c.536A>T

1 paper

NM_012242.4

p.R225S

c.675A>C

1 paper

NM_012242.4

p.R225S

c.675A>T

1 paper

NM_012242.4

p.H229H

c.687T>C

1 paper

NM_012242.4

p.G230R

c.688G>A