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

1–12 of 715 variants

14 papers

NM_203447.4

p.S1711*

c.5132C>A

12 papers

NM_203447.4

p.S1711*

c.5132C>G

9 papers

NM_203447.4

p.R18Splc

c.54-1G>T

8 papers

NM_203447.4

p.A22V

c.65C>T

8 papers

NM_203447.4

p.P97T

c.289C>A

7 papers

NM_203447.4

p.Y1875*

c.5625T>G

6 papers

NM_203447.4

p.D63N

c.187G>A

6 papers

NM_203447.4

p.L284delFs

c.850_851delCT

6 papers

NM_203447.4

p.N413S

c.1238A>G

6 papers

NM_203447.4

p.Y1340C

c.4019A>G

5 papers

NM_203447.4

p.A597V

c.1790C>T

5 papers

NM_203447.4

p.K623Splc

c.1869-1G>C