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.L38P

c.113T>C

Surrounding Variants

9 papers

NM_018062.4

p.L38F

c.112C>T

1 paper

NM_018062.4

p.L38V

c.112C>G

1 paper

NM_018062.4

p.L38I

c.112C>A

1 paper

NM_018062.4

p.R39insFs

c.116_117ins4

1 paper

NM_018062.4

p.R39S

c.117G>T

1 paper

NM_018062.4

p.R39S

c.117G>C

1 paper

NM_018062.4

p.H37Y

c.109C>T

1 paper

NM_018062.4

p.H37_L38insA

c.109_113ins3

4 papers

NM_018062.4

p.F36L

c.108C>G

4 papers

NM_018062.4

p.F36L

c.108C>A

4 papers

NM_018062.4

p.F36L

c.106T>C

1 paper

NM_018062.4

p.V41L

c.121G>T