Varaico: Literature-Extracted Genetic Variants

DOCK5

142 papers

RefSeq Summary

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

Pfam Domains

SH3_1aa 14–55UCSCSH3 domain

DOCK_Naa 71–434UCSCDOCK N-terminus

DOCK-C2aa 439–636UCSCC2 domain in Dock180 and Zizimin proteins

TPR_DOCKaa 646–1175UCSCDedicator of cytokinesis (DOCK) TPR region

DHR-2_Lobe_Aaa 1223–1354UCSCDHR-2, Lobe A

DHR-2_Lobe_Baa 1411–1494UCSCDHR-2, Lobe B

Gene Aliases

HGNC Name

dedicator of cytokinesis 5

HGNC Alias Symbol

FLJ21034

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_024940.8

p.W1737*

c.5210G>A

Surrounding Variants

1 paper

NM_024940.8

p.W1737*

c.5211G>A

1 paper

NM_024940.8

p.A1709S

c.5125G>T

1 paper

NM_024940.8

p.G1698Splc

c.5094-4A>G

1 paper

NM_024940.8

p.L1801I

c.5401C>A

2 papers

NM_024940.8

p.A1812T

c.5434G>A

1 paper

NM_024940.8

p.V1816V

c.5448C>T

1 paper

NM_024940.8

p.G1861C

c.5581G>T

1 paper

NM_024940.8

p.S1869Y

c.5606C>A

1 paper

NM_024940.8

p.T1647T

c.4941G>A

1 paper

NM_024940.8

p.N1645K

c.4935C>A

1 paper

NM_024940.8

p.N1645K

c.4935C>G

1 paper

NM_024940.8

p.R1627Q

c.4880G>A