Varaico: Literature-Extracted Genetic Variants

FANCL

434 papers

RefSeq Summary

This gene encodes a ubiquitin ligase that is a member of the Fanconi anemia complementation group (FANC). Members of this group are related by their assembly into a common nuclear protein complex rath...

Pfam Domains

FANCL_d1aa 5–93UCSCFANCL UBC-like domain 1

FANCL_d2aa 108–217UCSCFANCL UBC-like domain 2

FANCL_d3aa 219–315UCSCFANCL UBC-like domain 3

FANCL_Caa 323–391UCSCFANCL C-terminal domain

Gene Aliases

HGNC Name

FA complementation group L

HGNC Previous Symbol

PHF9

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001114636.2

p.G322V

c.965G>T

NM_018062.4

p.G317V

c.950G>T

Surrounding Variants

1 paper

NM_018062.4

p.G317C

c.949G>T

1 paper

NM_018062.4

p.G317R

c.949G>C

1 paper

NM_018062.4

p.G317S

c.949G>A

1 paper

NM_018062.4

p.D316E

c.948C>G

3 papers

NM_018062.4

p.D316insFs

c.947dupA

1 paper

NM_018062.4

p.D316E

c.948C>A

2 papers

NM_018062.4

p.T318S

c.952A>T

2 papers

NM_018062.4

p.D316V

c.947A>T

1 paper

NM_018062.4

p.I319F

c.955A>T

1 paper

NM_018062.4

p.I319V

c.955A>G

1 paper

NM_018062.4

p.P320A

c.958C>G

1 paper

NM_001114636.2

p.P325R

c.974C>G