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.P332S

c.994C>T

Surrounding Variants

1 paper

NM_018062.4

p.Q331H

c.993A>T

1 paper

NM_018062.4

p.Q331H

c.993A>C

9 papers

NM_018062.4

p.P332P

c.996T>C

1 paper

NM_018062.4

p.Q331R

c.992A>G

1 paper

NM_018062.4

p.G330V

c.989G>T

1 paper

NM_018062.4

p.G330E

c.989G>A

1 paper

NM_018062.4

p.F333L

c.999C>G

2 papers

NM_018062.4

p.Q335*

c.1003C>T

1 paper

NM_018062.4

p.Q335Fs

c.1003delinsGAFs

1 paper

NM_018062.4

p.Q335fs

c.1003_1004fs

1 paper

NM_018062.4

p.Q335L

c.1004A>T

6 papers

NM_018062.4

p.S327S

c.981T>C