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.Q568*

c.1702C>T

Surrounding Variants

1 paper

NM_203447.4

p.V565L

c.1693G>C

2 papers

NM_203447.4

p.R560Splc

c.1680-2A>G

1 paper

NM_203447.4

p.L576V

c.1726C>G

5 papers

NM_203447.4

p.A597V

c.1790C>T

1 paper

NM_001190458.2

p.P531_V532Splc

c.1593+1G>T

1 paper

NM_001190458.2

p.K536K

c.1608A>G

1 paper

NM_203447.4

p.S606N

c.1817G>A

1 paper

NM_203447.4

p.P608P

c.1824T>A

2 papers

NM_203447.4

p.E609D

c.1827A>T

1 paper

NM_203447.4

p.Y620*

c.1860C>A

1 paper

NM_203447.4

p.Y620*

c.1860C>G

1 paper

NM_203447.4

p.K623N

c.1869G>C