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.M370I

c.1110G>C

Surrounding Variants

1 paper

NM_018062.4

p.M370I

c.1110G>T

1 paper

NM_018062.4

p.M370I

c.1110G>A

1 paper

NM_018062.4

p.M370V

c.1108A>G

1 paper

NM_018062.4

p.S371_G372insFs

c.1113_1114ins4

8 papers

NM_018062.4

p.G372insFs

c.1114_1115ins4

1 paper

NM_018062.4

p.S371_G372insFs

c.1113_1114dupTG

6 papers

NM_018062.4

p.S371_G372insFs

c.1111_1114dup4

1 paper

NM_018062.4

p.G372insFs

c.1115_1116ins4

1 paper

NM_018062.4

p.K369Q

c.1105A>C

1 paper

NM_018062.4

p.S371_G372del2

c.1111_1115del6

1 paper

NM_018062.4

p.T367delFs

c.1100delG

18 papers

NM_018062.4

p.T367fs

c.1099_1100fs