Varaico: Literature-Extracted Genetic Variants

DOCK1

126 papers

RefSeq Summary

This gene encodes a member of the dedicator of cytokinesis protein family. Dedicator of cytokinesis proteins act as guanine nucleotide exchange factors for small Rho family G proteins. The encoded pro...

Pfam Domains

SH3_1aa 15–62UCSCSH3 domain

DOCK_Naa 72–416UCSCDOCK N-terminus

DOCK-C2aa 421–618UCSCC2 domain in Dock180 and Zizimin proteins

TPR_DOCKaa 628–1152UCSCDedicator of cytokinesis (DOCK) TPR region

DHR-2_Lobe_Aaa 1199–1330UCSCDHR-2, Lobe A

DHR-2_Lobe_Baa 1387–1469UCSCDHR-2, Lobe B

Gene Aliases

HGNC Name

dedicator of cytokinesis 1

HGNC Alias Symbols

DOCK180; ced5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001290223.2

p.L30F

c.90A>C

Surrounding Variants

1 paper

NM_001290223.2

p.L30F

c.90A>T

1 paper

NM_001290223.2

p.I32delFs

c.94delA

1 paper

NM_001290223.2

p.D34D

c.102C>T

1 paper

NM_001290223.2

p.R47Q

c.140G>A

1 paper

NM_001290223.2

p.K57_G58Splc

c.171+1G>T