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.S21A

c.61T>G

Surrounding Variants

1 paper

NM_018062.4

p.S21L

c.62C>T

1 paper

NM_018062.4

p.R20L

c.59G>T

1 paper

NM_018062.4

p.R20G

c.58C>G

1 paper

NM_018062.4

p.K22N

c.66A>T

1 paper

NM_018062.4

p.K22N

c.66A>C

1 paper

NM_018062.4

p.T23S

c.67A>T

1 paper

NM_018062.4

p.T23A

c.67A>G

2 papers

NM_018062.4

p.T23I

c.68C>T

1 paper

NM_018062.4

p.Q18L

c.53A>T

1 paper

NM_018062.4

p.V24fs

c.70_71fs

2 papers

NM_018062.4

p.Q18*

c.52C>T

1 paper

NM_018062.4

p.Q18K

c.52C>A