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.S112_S113delFs

c.336_337delTT

Surrounding Variants

3 papers

NM_018062.4

p.S113N

c.338G>A

1 paper

NM_018062.4

p.S113S

c.339C>T

5 papers

NM_018062.4

p.S112L

c.335C>T

1 paper

NM_018062.4

p.I115F

c.343A>T

3 papers

NM_018062.4

p.I115V

c.343A>G

1 paper

NM_018062.4

p.I115T

c.344T>C

1 paper

NM_018062.4

p.Y111C

c.332A>G

1 paper

NM_018062.4

p.E116Q

c.346G>C

1 paper

NM_018062.4

p.E116K

c.346G>A

1 paper

NM_018062.4

p.F110S

c.329T>C

1 paper

NM_018062.4

p.E117*

c.349G>T

1 paper

NM_018062.4

p.Q109fs

c.325_326fs