Varaico: Literature-Extracted Genetic Variants

DOCK6

230 papers

RefSeq Summary

This gene encodes a member of the dedicator of cytokinesis (DOCK) family of atypical guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with small GTPases and are compon...

Pfam Domains

DOCK_C-D_Naa 48–157UCSCDedicator of cytokinesis C/D, N terminal

DOCK-C2aa 544–723UCSCC2 domain in Dock180 and Zizimin proteins

TPR_DOCK9aa 897–1049UCSCDOCK9-like, TPR repeats

DHR-2_Lobe_Aaa 1580–1739UCSCDHR-2, Lobe A

DHR-2_Lobe_Baa 1805–1881UCSCDHR-2, Lobe B

DHR-2_Lobe_Caa 1915–2017UCSCDHR-2, Lobe C

Gene Aliases

HGNC Name

dedicator of cytokinesis 6

HGNC Alias Symbols

KIAA1395; ZIR1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020812.4

p.R1490Q

c.4469G>A

Surrounding Variants

1 paper

NM_020812.4

p.R1490*

c.4468C>T

1 paper

NM_020812.4

p.Q1491Q

c.4473G>A

9 papers

NM_020812.4

p.E1494*

c.4480G>T

3 papers

NM_020812.4

p.H1497_N1498Splc

c.4491+1G>T

1 paper

NM_020812.4

p.H1497_N1498Splc

c.4491+1G>C

5 papers

NM_020812.4

p.H1497_N1498Splc

c.4491+1G>A

1 paper

NM_020812.4

p.R1478C

c.4432C>T

1 paper

NM_020812.4

p.L1466I

c.4396C>A

1 paper

NM_020812.4

p.F1452F

c.4356C>T

1 paper

NM_020812.4

p.P1448P

c.4344G>A

1 paper

NM_020812.4

p.R1501delFs

c.4501_4502delCG

1 paper

NM_020812.4

p.V1502_K1503insFs

c.4505_4508dup4