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

9 papers

NM_018062.4

p.L80V

c.238C>G

Surrounding Variants

1 paper

NM_018062.4

p.L80L

c.238C>T

1 paper

NM_018062.4

p.L80delFs

c.238delG

1 paper

NM_018062.4

p.D79V

c.236A>T

1 paper

NM_018062.4

p.D79A

c.236A>C

1 paper

NM_018062.4

p.D79N

c.235G>A

1 paper

NM_018062.4

p.M81L

c.241A>T

1 paper

NM_018062.4

p.M81V

c.241A>G

2 papers

NM_018062.4

p.S82R

c.244A>C

1 paper

NM_018062.4

p.S82T

c.245G>C

1 paper

NM_018062.4

p.S77F

c.230C>T

2 papers

NM_018062.4

p.S82R

c.246C>G

3 papers

NM_018062.4

p.S82R

c.246C>A