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

2 papers

NM_018062.4

p.Y311*

c.933T>A

Surrounding Variants

1 paper

NM_018062.4

p.Y311*

c.933T>G

1 paper

NM_018062.4

p.A312P

c.934G>C

1 paper

NM_018062.4

p.A312T

c.934G>A

1 paper

NM_018062.4

p.Y313fs

c.937_938fs

1 paper

NM_018062.4

p.C310S

c.929G>C

1 paper

NM_018062.4

p.Y313_Q314delFs

c.937_940del4

1 paper

NM_018062.4

p.G308*

c.922G>T

2 papers

NM_001114636.2

p.C312F

c.935G>T

NM_018062.4

p.C307F

c.920G>T

2 papers

NM_018062.4

p.D316V

c.947A>T

1 paper

NM_018062.4

p.D316E

c.948C>G

3 papers

NM_018062.4

p.D316insFs

c.947dupA

1 paper

NM_018062.4

p.D316E

c.948C>A