Varaico: Literature-Extracted Genetic Variants

Gene:HAUS6
Variant:p.K217Splc

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.K217Splc
c.651-92G>A
Surrounding Variants
1 paper
NM_017645.5
p.K217Splc
c.651-91G>T
5 papers
NM_017645.5
p.K230Q
c.688A>C
1 paper
NM_017645.5
p.Q200H
c.600G>C
1 paper
NM_017645.5
p.K199K
c.597G>A
1 paper
NM_017645.5
p.V198V
c.594T>C
1 paper
NM_017645.5
p.S197S
c.591A>G
2 papers
NM_017645.5
p.R175T
c.524G>C
1 paper
NM_017645.5
p.R173G
c.517C>G
1 paper
NM_017645.5
p.S148F
c.443C>T
1 paper
NM_017645.5
p.L330F
c.990G>T
1 paper
NM_017645.5
p.L330F
c.990G>C
1 paper
NM_017645.5
p.Q110R
c.329A>G
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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."