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.G395R

c.1183G>C

Surrounding Variants

1 paper

NM_203447.4

p.G395R

c.1183G>A

1 paper

NM_203447.4

p.R398Q

c.1193G>A

1 paper

NM_203447.4

p.P400A

c.1198C>G

1 paper

NM_203447.4

p.S389F

c.1166C>T

1 paper

NM_203447.4

p.F390del1

c.1168_1169delTTC

1 paper

NM_203447.4

p.A387A

c.1161T>G

1 paper

NM_203447.4

p.A387T

c.1159G>A

1 paper

NM_203447.4

p.W403delFs

c.1209delG

1 paper

NM_203447.4

p.Q386*

c.1156C>T

1 paper

NM_203447.4

p.P405S

c.1213C>T

1 paper

NM_203447.4

p.I406L

c.1216A>C

1 paper

NM_203447.4

p.I406L

c.1216A>T