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.I288L

c.862A>C

Surrounding Variants

1 paper

NM_203447.4

p.L284fs

c.850_851fs

1 paper

NM_203447.4

p.L284V

c.850C>G

1 paper

NM_203447.4

p.L284fs

c.850_851fs

1 paper

NM_203447.4

p.D292N

c.874G>A

1 paper

NM_203447.4

p.V293delFs

c.877_878delGT

8 papers

NM_001190458.2

p.L216delFs

c.646_647delCT

NM_203447.4

p.L284delFs

c.850_851delCT

1 paper

NM_203447.4

p.E282D

c.846G>C

1 paper

NM_203447.4

p.E282D

c.846G>T

1 paper

NM_203447.4

p.V293_K294delFs

c.879_880delTA

1 paper

NM_203447.4

p.K294_E295delFs

c.880_883del4

1 paper

NM_203447.4

p.R296W

c.886A>T

1 paper

NM_203447.4

p.E278K

c.832G>A