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_018062.4

p.L214P

c.641T>C

Surrounding Variants

1 paper

NM_018062.4

p.L214V

c.640C>G

1 paper

NM_018062.4

p.E215*

c.643G>T

1 paper

NM_018062.4

p.E215Q

c.643G>C

1 paper

NM_018062.4

p.V213_E215delFs

c.637_643del7

1 paper

NM_018062.4

p.V213_L214insT

c.637_641ins3

7 papers

NM_018062.4

p.V213I

c.637G>A

1 paper

NM_018062.4

p.W212C

c.636G>C

1 paper

NM_018062.4

p.W212L

c.635G>T

1 paper

NM_018062.4

p.W212*

c.635G>A

1 paper

NM_018062.4

p.P216L

c.647C>T

1 paper

NM_018062.4

p.P216Q

c.647C>A

1 paper

NM_018062.4

p.E217K

c.649G>A