Varaico: Literature-Extracted Genetic Variants

Gene:DKK1
Variant:p.H251ins2

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
1 paper
NM_012242.4
p.H251ins2
c.752_753ins6
Surrounding Variants
1 paper
NM_012242.4
p.Q253R
c.758A>G
1 paper
NM_012242.4
p.Q248*
c.742C>T
1 paper
NM_012242.4
p.R246Q
c.737G>A
1 paper
NM_012242.4
p.S244Y
c.731C>A
1 paper
NM_012242.4
p.S258Y
c.773C>A
1 paper
NM_012242.4
p.C263R
c.787T>C
1 paper
NM_012242.4
p.E232A
c.695A>C
2 papers
NM_012242.4
p.E232K
c.694G>A
1 paper
NM_012242.4
p.G230R
c.688G>A
1 paper
NM_012242.4
p.G230R
c.688G>C
1 paper
NM_012242.4
p.H229H
c.687T>C
1 paper
NM_012242.4
p.R225S
c.675A>C
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