Varaico: Literature-Extracted Genetic Variants

HAUS3

52 papers

RefSeq Summary

This gene encodes a component of the HAUS augmin-like protein complex, which plays a key role in cytokinesis and mitosis. Disruption of the encoded protein causes mitotic defects resulting from fragme...

Pfam Domains

HAUS-augmin3aa 29–282UCSCHAUS augmin-like complex subunit 3

HAUS3_CCaa 441–515UCSCHAUS3, coiled-coil domain

HAUS3_Caa 527–596UCSCHAUS3, C-terminal domain

Gene Aliases

HGNC Name

HAUS augmin like complex subunit 3

HGNC Previous Symbol

C4orf15

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001303143.2

p.C271fs

c.811_812fs

Surrounding Variants

3 papers

NM_001303143.2

p.C271delFs

c.811delA

1 paper

NM_001303143.2

p.C271fs

c.811_812fs

1 paper

NM_001303143.2

p.A268T

c.802G>A

1 paper

NM_001303143.2

p.D236N

c.706G>A

1 paper

NM_001303143.2

p.S205C

c.613A>T

1 paper

NM_001303143.2

p.E143A

c.428A>C

2 papers

NM_001303143.2

p.E143K

c.427G>A

1 paper

NM_001303143.2

p.E142Q

c.424G>C

1 paper

NM_001303143.2

p.L115Q

c.344T>A

1 paper

NM_001303143.2

p.K90*

c.268A>T

1 paper

NM_001303143.2

p.I63L

c.187A>C

1 paper

NM_001303143.2

p.S54F

c.161C>T