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.S363G

c.1087A>G

Surrounding Variants

1 paper

NM_018062.4

p.C362F

c.1085G>T

1 paper

NM_001114636.2

p.Y366_C367insFs

c.1096_1099dup4

1 paper

NM_018062.4

p.C362Y

c.1085G>A

10 papers

NM_018062.4

p.K364K

c.1092G>A

1 paper

NM_018062.4

p.K364del1

c.1090_1091delCTT

1 paper

NM_018062.4

p.P360S

c.1078C>T

2 papers

NM_018062.4

p.C359C

c.1077T>C

1 paper

NM_018062.4

p.C359*

c.1077T>A

1 paper

NM_018062.4

p.E358K

c.1072G>A

1 paper

NM_018062.4

p.G357V

c.1070G>T

1 paper

NM_018062.4

p.F356delFs

c.1066_1067delAA

1 paper

NM_018062.4

p.F356Y

c.1067T>A