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.S471P

c.1411T>C

Surrounding Variants

1 paper

NM_024940.8

p.T469M

c.1406C>T

1 paper

NM_024940.8

p.G453C

c.1357G>T

1 paper

NM_024940.8

p.R443W

c.1327C>T

1 paper

NM_024940.8

p.H485N

c.1453C>A

1 paper

NM_024940.8

p.I527V

c.1579A>G

1 paper

NM_024940.8

p.R532Q

c.1595G>A

1 paper

NM_024940.8

p.T539Splc

c.1615+1G>T

1 paper

NM_024940.8

p.R429W

c.1285C>T

1 paper

NM_024940.8

p.F417L

c.1251T>A

1 paper

NM_024940.8

p.F417L

c.1251T>G

1 paper

NM_024940.8

p.F417L

c.1249T>C

1 paper

NM_024940.8

p.D541_K542insFs

c.1623_1624ins10