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

1 paper

NM_018062.4

p.K49M

c.146A>T

Surrounding Variants

1 paper

NM_018062.4

p.K49*

c.145A>T

1 paper

NM_018062.4

p.N50K

c.150T>A

1 paper

NM_018062.4

p.L48L

c.142C>T

3 papers

NM_018062.4

p.L48V

c.142C>G

1 paper

NM_018062.4

p.L46delFs

c.136_137delAA

1 paper

NM_018062.4

p.R52T

c.155G>C

2 papers

NM_018062.4

p.R52Splc

c.155+1G>A

1 paper

NM_018062.4

p.D45V

c.134A>T

1 paper

NM_018062.4

p.D45Y

c.133G>T

1 paper

NM_018062.4

p.D45N

c.133G>A

1 paper

NM_018062.4

p.R52Splc

c.155+4A>G

1 paper

NM_018062.4

p.E44E

c.132A>G