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.L79F

c.235C>T

Surrounding Variants

1 paper

NM_203447.4

p.A80insFs

c.238_239insG

1 paper

NM_203447.4

p.V77E

c.230T>A

1 paper

NM_203447.4

p.Q81delFs

c.242_243delAG

1 paper

NM_203447.4

p.E82insFs

c.245dupA

1 paper

NM_203447.4

p.L75L

c.223C>T

2 papers

NM_203447.4

p.G84delFs

c.250delG

1 paper

NM_203447.4

p.G84R

c.250G>A

1 paper

NM_203447.4

p.G84R

c.250G>C

2 papers

NM_203447.4

p.D85fs

c.253_254fs

1 paper

NM_203447.4

p.D88H

c.262G>C

1 paper

NM_203447.4

p.D88G

c.263A>G

1 paper

NM_203447.4

p.D90del1

c.268_269delGAC