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.V70I

c.208G>A

Surrounding Variants

1 paper

NM_018062.4

p.I69M

c.207A>G

3 papers

NM_018062.4

p.Q71*

c.211C>T

1 paper

NM_018062.4

p.Q71E

c.211C>G

1 paper

NM_018062.4

p.I69L

c.205A>T

8 papers

NM_018062.4

p.R68P

c.203G>C

4 papers

NM_018062.4

p.R68Q

c.203G>A

1 paper

NM_018062.4

p.Q71H

c.213A>T

1 paper

NM_018062.4

p.Q71H

c.213A>C

1 paper

NM_018062.4

p.Q71_Q72insFs

c.213_214insT

1 paper

NM_018062.4

p.R68*

c.202C>T

1 paper

NM_018062.4

p.Q72K

c.214C>A

3 papers

NM_018062.4

p.Q72_R73Splc

c.216+1G>T