Varaico: Literature-Extracted Genetic Variants

Gene:DOCK5
Variant:p.P1439R

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.P1439R
c.4316C>G
Surrounding Variants
1 paper
NM_024940.8
p.R1391Q
c.4172G>A
1 paper
NM_024940.8
p.R1391*
c.4171C>T
1 paper
NM_024940.8
p.P1467L
c.4400C>T
1 paper
NM_024940.8
p.E1472Q
c.4414G>C
1 paper
NM_024940.8
p.R1486Q
c.4457G>A
1 paper
NM_024940.8
p.T1490M
c.4469C>T
1 paper
NM_024940.8
p.A1518S
c.4552G>T
1 paper
NM_024940.8
p.E1520K
c.4558G>A
1 paper
NM_024940.8
p.N1526N
c.4578C>T
1 paper
NM_024940.8
p.W1538R
c.4612T>A
1 paper
NM_024940.8
p.W1538R
c.4612T>C
1 paper
NM_024940.8
p.P1557L
c.4670C>T
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