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.K521T

c.1562A>C

Surrounding Variants

1 paper

NM_001287492.4

p.K521N

c.1563A>T

1 paper

NM_001287492.4

p.K521N

c.1563A>C

2 papers

NM_001287492.4

p.E523K

c.1567G>A

1 paper

NM_001287492.4

p.S516C

c.1547C>G

2 papers

NM_001287492.4

p.E515D

c.1545A>T

2 papers

NM_001287492.4

p.E515D

c.1545A>C

1 paper

NM_001287492.4

p.A531S

c.1591G>T

1 paper

NM_001287492.4

p.D511N

c.1531G>A

1 paper

NM_001287492.4

p.S507_Q508delFs

c.1519_1523del5

1 paper

NM_001287492.4

p.Q508P

c.1523A>C

1 paper

NM_001287492.4

p.S507fs

c.1519_1520fs

1 paper

NM_001287492.4

p.S507fs

c.1519_1520fs