Varaico: Literature-Extracted Genetic Variants

DOCK8

416 papers

RefSeq Summary

This gene encodes a member of the DOCK180 family of guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with Rho GTPases and are components of intracellular signaling net...

Pfam Domains

DOCK_C-D_Naa 56–166UCSCDedicator of cytokinesis C/D, N terminal

DOCK-C2aa 556–738UCSCC2 domain in Dock180 and Zizimin proteins

TPR_DOCK9aa 938–1101UCSCDOCK9-like, TPR repeats

DHR-2_Lobe_Aaa 1625–1784UCSCDHR-2, Lobe A

DHR-2_Lobe_Baa 1848–1924UCSCDHR-2, Lobe B

DHR-2_Lobe_Caa 1958–2060UCSCDHR-2, Lobe C

Gene Aliases

HGNC Name

dedicator of cytokinesis 8

HGNC Alias Symbols

FLJ00026; FLJ00152; ZIR8; FLJ00346

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_203447.4

p.S1706F

c.5117C>T

Surrounding Variants

1 paper

NM_203447.4

p.E1702V

c.5105A>T

14 papers

NM_203447.4

p.S1711*

c.5132C>A

12 papers

NM_203447.4

p.S1711*

c.5132C>G

4 papers

NM_203447.4

p.P1712T

c.5134C>A

1 paper

NM_203447.4

p.S1697F

c.5090C>T

1 paper

NM_203447.4

p.V1717A

c.5150T>C

1 paper

NM_203447.4

p.C1718S

c.5153G>C

1 paper

NM_203447.4

p.C1718*

c.5154C>A

1 paper

NM_203447.4

p.C1718C

c.5154C>T

1 paper

NM_203447.4

p.Q1721*

c.5161C>T

3 papers

NM_203447.4

p.E1725D

c.5175G>C

3 papers

NM_203447.4

p.E1725D

c.5175G>T