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.E86G

c.257A>G

Surrounding Variants

1 paper

NM_018062.4

p.M85I

c.255G>C

1 paper

NM_018062.4

p.M85L

c.253A>T

1 paper

NM_018062.4

p.M85L

c.253A>C

2 papers

NM_018062.4

p.M84I

c.252G>T

2 papers

NM_018062.4

p.M84I

c.252G>C

2 papers

NM_018062.4

p.M84I

c.252G>A

2 papers

NM_018062.4

p.K88N

c.264G>T

1 paper

NM_018062.4

p.K88N

c.264G>C

1 paper

NM_018062.4

p.K88K

c.264G>A

1 paper

NM_018062.4

p.M84L

c.250A>T

1 paper

NM_018062.4

p.M84L

c.250A>C

1 paper

NM_018062.4

p.M89L

c.265A>T