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.V323L

c.967G>T

Surrounding Variants

1 paper

NM_018062.4

p.V323M

c.967G>A

1 paper

NM_018062.4

p.V323A

c.968T>C

1 paper

NM_018062.4

p.Q322H

c.966A>T

1 paper

NM_018062.4

p.Q322H

c.966A>C

1 paper

NM_018062.4

p.C324S

c.971G>C

1 paper

NM_018062.4

p.D325Y

c.973G>T

3 papers

NM_018062.4

p.D325N

c.973G>A

1 paper

NM_018062.4

p.D321N

c.961G>A

1 paper

NM_001114636.2

p.P325R

c.974C>G

1 paper

NM_018062.4

p.P320A

c.958C>G

1 paper

NM_018062.4

p.N326D

c.976A>G

1 paper

NM_018062.4

p.N326S

c.977A>G