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.I336_C337del2

c.1006_1010del6

Surrounding Variants

15 papers

NM_018062.4

p.I336_C337del1

c.1007_1009delATA

NM_001114636.2

p.I341_C342del1

c.1022_1024delATA

1 paper

NM_018062.4

p.L338insFs

c.1013_1014insT

1 paper

NM_018062.4

p.I336insFs

c.1008dupA

1 paper

NM_018062.4

p.Y339H

c.1015T>C

1 paper

NM_018062.4

p.C337R

c.1009T>C

2 papers

NM_018062.4

p.E340K

c.1018G>A

2 papers

NM_018062.4

p.E340A

c.1019A>C

1 paper

NM_018062.4

p.Q335L

c.1004A>T

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.F333L

c.999C>G