Varaico: Literature-Extracted Genetic Variants

Gene:HAUS6
Variant:p.S530fs

HAUS6

55 papers

RefSeq Summary

The protein encoded by this gene is a subunit of the augmin complex. The augmin complex plays a role in microtubule attachment to the kinetochore and central spindle formation. This protein may have a...

Pfam Domains

HAUS6_Naa 14–239UCSCHAUS augmin-like complex subunit 6 N-terminus

Gene Aliases

HGNC Name

HAUS augmin like complex subunit 6

HGNC Previous Symbol

FAM29A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017645.5
p.S530fs
c.1588_1589fs
Surrounding Variants
1 paper
NM_017645.5
p.K514E
c.1540A>G
1 paper
NM_017645.5
p.K514Q
c.1540A>C
1 paper
NM_017645.5
p.E503K
c.1507G>A
1 paper
NM_017645.5
p.S465S
c.1395G>T
1 paper
NM_017645.5
p.L464V
c.1390T>G
2 papers
NM_017645.5
p.S552T
c.1654T>A
1 paper
NM_017645.5
p.I561T
c.1682T>C
1 paper
NM_017645.5
p.P582S
c.1744C>T
1 paper
NM_017645.5
p.S595L
c.1784C>T
1 paper
NM_017645.5
p.E619V
c.1856A>T
1 paper
NM_017645.5
p.E623K
c.1867G>A
1 paper
NM_017645.5
p.S624L
c.1871C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."