Varaico: Literature-Extracted Genetic Variants

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.R181G

c.541C>G

Surrounding Variants

1 paper

NM_001287492.4

p.P149T

c.445C>A

1 paper

NM_001287492.4

p.V137M

c.409G>A

1 paper

NM_001287492.4

p.K225R

c.674A>G

1 paper

NM_001287492.4

p.L129Q

c.386T>A

2 papers

NM_001287492.4

p.I236T

c.707T>C

1 paper

NM_001287492.4

p.F125fs

c.373_374fs

1 paper

NM_001287492.4

p.F125S

c.374T>C

1 paper

NM_001287492.4

p.S246C

c.737C>G

1 paper

NM_001287492.4

p.I106V

c.316A>G

1 paper

NM_001287492.4

p.G103V

c.308G>T

2 papers

NM_001287492.4

p.A63delFs

c.189delT

1 paper

NM_001287492.4

p.E64fs

c.190_191fs