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

7 papers

NM_203447.4

p.Y1875*

c.5625T>G

Surrounding Variants

5 papers

NM_203447.4

p.Y1875*

c.5625T>A

1 paper

NM_203447.4

p.E1876K

c.5626G>A

1 paper

NM_203447.4

p.E1876E

c.5628G>A

1 paper

NM_203447.4

p.E1876D

c.5628G>C

1 paper

NM_203447.4

p.E1876D

c.5628G>T

4 papers

NM_203447.4

p.Y1871C

c.5612A>G

1 paper

NM_203447.4

p.Y1883fs

c.5647_5648fs

3 papers

NM_203447.4

p.F1867V

c.5599T>G

1 paper

NM_203447.4

p.K1886delFs

c.5656_5657delAA

1 paper

NM_203447.4

p.K1886fs

c.5656_5657fs

1 paper

NM_203447.4

p.Q1864E

c.5590C>G

1 paper

NM_203447.4

p.K1860_A1861Splc

c.5581-4T>G