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

1–12 of 101 variants

3 papers

NM_001287492.4

p.A298E

c.893C>A

3 papers

NM_001287492.4

p.K473E

c.1417A>G

3 papers

NM_001287492.4

p.K473Q

c.1417A>C

3 papers

NM_001287492.4

p.R483C

c.1447C>T

3 papers

NM_001287492.4

p.E501Q

c.1501G>C

2 papers

NM_001287492.4

p.A63delFs

c.189delT

2 papers

NM_001287492.4

p.I236T

c.707T>C

2 papers

NM_001287492.4

p.L422W

c.1265T>G

2 papers

NM_001287492.4

p.K447R

c.1340A>G

2 papers

NM_001287492.4

p.S466Y

c.1397C>A

2 papers

NM_001287492.4

p.S469F

c.1406C>T

2 papers

NM_001287492.4

p.D500A

c.1499A>C