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.S619N

c.1856G>A

Surrounding Variants

1 paper

NM_024940.8

p.Q621K

c.1861C>A

1 paper

NM_024940.8

p.S628C

c.1883C>G

1 paper

NM_024940.8

p.K604N

c.1812A>T

1 paper

NM_024940.8

p.K604T

c.1811A>C

1 paper

NM_024940.8

p.Q601*

c.1801C>T

1 paper

NM_024940.8

p.L586L

c.1758G>T

1 paper

NM_024940.8

p.K583E

c.1747A>G

1 paper

NM_024940.8

p.D581D

c.1743T>C

1 paper

NM_024940.8

p.K553K

c.1659G>A

1 paper

NM_024940.8

p.R545*

c.1633C>T

1 paper

NM_024940.8

p.D541_K542insFs

c.1623_1624ins10

1 paper

NM_024940.8

p.T539Splc

c.1615+1G>T