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.L377fs

c.1129_1130fs

Surrounding Variants

1 paper

NM_001303143.2

p.S383*

c.1148C>A

1 paper

NM_001303143.2

p.S390*

c.1169C>G

1 paper

NM_001303143.2

p.S390*

c.1169C>A

1 paper

NM_001303143.2

p.R399Q

c.1196G>A

2 papers

NM_001303143.2

p.Y402C

c.1205A>G

1 paper

NM_001303143.2

p.V351A

c.1052T>C

1 paper

NM_001303143.2

p.I331_R334delFs

c.993_1000del8

1 paper

NM_001303143.2

p.I331fs

c.991_992fs

1 paper

NM_001303143.2

p.I321T

c.962T>C

1 paper

NM_001303143.2

p.R438K

c.1313G>A

1 paper

NM_001303143.2

p.C271fs

c.811_812fs

3 papers

NM_001303143.2

p.C271delFs

c.811delA