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.R10L

c.29G>T

Surrounding Variants

1 paper

NM_018062.4

p.R10insFs

c.29_30ins4

2 papers

NM_018062.4

p.Q11*

c.31C>T

2 papers

NM_018062.4

p.Q11H

c.33G>T

2 papers

NM_018062.4

p.Q11H

c.33G>C

1 paper

NM_018062.4

p.Q11Q

c.33G>A

1 paper

NM_018062.4

p.S7insFs

c.21dupC

1 paper

NM_018062.4

p.C12S

c.35G>C

1 paper

NM_018062.4

p.C12Y

c.35G>A

1 paper

NM_018062.4

p.L8V

c.22C>G

1 paper

NM_018062.4

p.C12*

c.36C>A

2 papers

NM_018062.4

p.S7R

c.21C>G

1 paper

NM_018062.4

p.P13insFs

c.37_38insA