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.E195V

c.584A>T

Surrounding Variants

1 paper

NM_018062.4

p.E195K

c.583G>A

1 paper

NM_018062.4

p.I194R

c.581T>G

1 paper

NM_018062.4

p.S196*

c.587C>G

1 paper

NM_018062.4

p.S196*

c.587C>A

1 paper

NM_001114636.2

p.I199V

c.595A>G

1 paper

NM_018062.4

p.L197fs

c.589_590fs

1 paper

NM_018062.4

p.A193S

c.577G>T

1 paper

NM_018062.4

p.A192G

c.575C>G

2 papers

NM_018062.4

p.K198delFs

c.592delT

1 paper

NM_018062.4

p.L191F

c.573G>T

1 paper

NM_018062.4

p.L191F

c.573G>C

1 paper

NM_018062.4

p.Q189_F190delFs

c.566_569del4