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.G35V

c.104G>T

Surrounding Variants

2 papers

NM_203447.4

p.G35D

c.104G>A

1 paper

NM_203447.4

p.L34P

c.101T>C

1 paper

NM_203447.4

p.R39*

c.115C>T

1 paper

NM_203447.4

p.Q40*

c.118C>T

1 paper

NM_203447.4

p.S41G

c.121A>G

1 paper

NM_203447.4

p.S43T

c.128G>C

1 paper

NM_203447.4

p.S43insFs

c.128_129insT

1 paper

NM_203447.4

p.Q27delFs

c.80delA

1 paper

NM_203447.4

p.T44T

c.132C>A

1 paper

NM_203447.4

p.R25T

c.74G>C

4 papers

NM_203447.4

p.G46D

c.137G>A

2 papers

NM_203447.4

p.I24V

c.70A>G