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.T648T

c.1944C>T

Surrounding Variants

1 paper

NM_203447.4

p.T648I

c.1943C>T

1 paper

NM_203447.4

p.H651D

c.1951C>G

2 papers

NM_203447.4

p.Q655*

c.1963C>T

1 paper

NM_203447.4

p.N642H

c.1924A>C

1 paper

NM_203447.4

p.Q656*

c.1966C>T

1 paper

NM_203447.4

p.Q656R

c.1967A>G

1 paper

NM_203447.4

p.A660D

c.1979C>A

1 paper

NM_203447.4

p.A660V

c.1979C>T

5 papers

NM_203447.4

p.A637T

c.1909G>A

2 papers

NM_203447.4

p.S669_W670Splc

c.2007+1G>C

1 paper

NM_203447.4

p.F627delFs

c.1879delT

1 paper

NM_203447.4

p.S669_W670Splc

c.2007+5G>A