Varaico: Literature-Extracted Genetic Variants

DOCK4

117 papers

RefSeq Summary

This gene is a member of the dedicator of cytokinesis (DOCK) family and encodes a protein with a DHR-1 (CZH-1) domain, a DHR-2 (CZH-2) domain and an SH3 domain. This membrane-associated, cytoplasmic p...

Pfam Domains

SH3_2aa 10–64UCSCVariant SH3 domain

DOCK_Naa 69–392UCSCDOCK N-terminus

DOCK-C2aa 397–583UCSCC2 domain in Dock180 and Zizimin proteins

TPR_DOCKaa 593–1134UCSCDedicator of cytokinesis (DOCK) TPR region

DHR-2_Lobe_Aaa 1181–1308UCSCDHR-2, Lobe A

DHR-2_Lobe_Baa 1365–1448UCSCDHR-2, Lobe B

Gene Aliases

HGNC Name

dedicator of cytokinesis 4

HGNC Alias Symbols

FLJ34238; KIAA0716

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001363540.2

p.F1589L

c.4767C>A

Surrounding Variants

1 paper

NM_001363540.2

p.F1589L

c.4767C>G

1 paper

NM_001363540.2

p.F1589L

c.4765T>C

1 paper

NM_001363540.2

p.M1592L

c.4774A>C

1 paper

NM_001363540.2

p.K1584fs

c.4750_4751fs

3 papers

NM_001363540.2

p.P1580P

c.4740C>A

1 paper

NM_001363540.2

p.P1630S

c.4888C>T

1 paper

NM_001363540.2

p.R1649Q

c.4946G>A

1 paper

NM_014705.4

p.P1718L

c.5153C>T

1 paper

NM_014705.4

p.P1733A

c.5197C>G

1 paper

NM_001363540.2

p.A1532A

c.4596A>G

1 paper

NM_001363540.2

p.E1479Q

c.4435G>C

2 papers

NM_001363540.2

p.P1477A

c.4429C>G