Varaico: Literature-Extracted Genetic Variants

Gene:FIGNL1
Variant:p.Q595H

FIGNL1

52 papers

RefSeq Summary

This gene encodes a member of the AAA ATPase family of proteins. The encoded protein is recruited to sites of DNA damage where it plays a role in DNA double-strand break repair via homologous recombin...

Pfam Domains

AAAaa 437–567UCSCATPase family associated with various cellular activities (AAA)
AAA_lid_3aa 590–633UCSCAAA+ lid domain
Vps4_Caa 626–671UCSCVps4 C terminal oligomerisation domain

Gene Aliases

HGNC Name

fidgetin like 1

HGNC Previous Name

fidgetin-like 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001287492.4
p.Q595H
c.1785G>T
Surrounding Variants
1 paper
NM_001287492.4
p.Q595H
c.1785G>C
1 paper
NM_001287492.4
p.Q595R
c.1784A>G
1 paper
NM_001287492.4
p.E592D
c.1776A>T
1 paper
NM_001287492.4
p.E592D
c.1776A>C
1 paper
NM_001287492.4
p.A602V
c.1805C>T
1 paper
NM_001287492.4
p.T609I
c.1826C>T
1 paper
NM_001287492.4
p.M581T
c.1742T>C
1 paper
NM_001287492.4
p.S571*
c.1712C>G
1 paper
NM_001287492.4
p.S571*
c.1712C>A
1 paper
NM_001287492.4
p.R621C
c.1861C>T
1 paper
NM_001287492.4
p.A570V
c.1709C>T
1 paper
NM_001287492.4
p.R621H
c.1862G>A
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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."