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

18 papers

NM_018062.4

p.T367fs

c.1099_1100fs

Surrounding Variants

1 paper

NM_018062.4

p.T367delFs

c.1100delG

27 papers

NM_018062.4

p.P365_I366insFs

c.1095_1098dup4

NM_001114636.2

p.I366_T367insFs

c.1096_1099dup4

9 papers

NM_018062.4

p.T367insFs

c.1099_1100ins4

NM_001114636.2

p.T372insFs

c.1114_1115ins4

1 paper

NM_018062.4

p.T367N

c.1100C>A

16 papers

NM_018062.4

p.T367fs

c.1099_1100fs

NM_001114636.2

p.T372fs

c.1114_1115fs

1 paper

NM_018062.4

p.I366insFs

c.1096dupA

1 paper

NM_018062.4

p.K369Q

c.1105A>C

1 paper

NM_018062.4

p.M370V

c.1108A>G

1 paper

NM_018062.4

p.P365S

c.1093C>T

1 paper

NM_018062.4

p.M370I

c.1110G>T

1 paper

NM_018062.4

p.M370I

c.1110G>C

1 paper

NM_018062.4

p.M370I

c.1110G>A