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

2 papers

NM_001287492.4

p.S469F

c.1406C>T

Surrounding Variants

1 paper

NM_001287492.4

p.S466C

c.1397C>G

2 papers

NM_001287492.4

p.S466Y

c.1397C>A

3 papers

NM_001287492.4

p.K473E

c.1417A>G

3 papers

NM_001287492.4

p.K473Q

c.1417A>C

1 paper

NM_001287492.4

p.S464T

c.1391G>C

1 paper

NM_001287492.4

p.G476C

c.1426G>T

1 paper

NM_001287492.4

p.E477K

c.1429G>A

1 paper

NM_001287492.4

p.G459V

c.1376G>T

1 paper

NM_001287492.4

p.K480E

c.1438A>G

3 papers

NM_001287492.4

p.R483C

c.1447C>T

1 paper

NM_001287492.4

p.R483H

c.1448G>A

1 paper

NM_001287492.4

p.C453R

c.1357T>C