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.S106insFs

c.316dupT

Surrounding Variants

1 paper

NM_203447.4

p.P105P

c.315C>A

2 papers

NM_203447.4

p.P105R

c.314C>G

1 paper

NM_203447.4

p.P105L

c.314C>T

1 paper

NM_203447.4

p.S106C

c.317C>G

1 paper

NM_203447.4

p.T102insFs

c.306dupT

1 paper

NM_203447.4

p.T102I

c.305C>T

1 paper

NM_203447.4

p.G111R

c.331G>A

1 paper

NM_203447.4

p.E99K

c.295G>A

1 paper

NM_203447.4

p.P97L

c.290C>T

9 papers

NM_203447.4

p.P97T

c.289C>A

NM_001190458.2

p.P29T

c.85C>A

1 paper

NM_203447.4

p.V93M

c.277G>A

1 paper

NM_203447.4

p.V93L

c.277G>C