Varaico: Literature-Extracted Genetic Variants

Gene:FANCL

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
1–12 of 776 variants
22 papers
NM_018062.4
p.P365_I366insFs
c.1095_1098dup4
18 papers
NM_018062.4
p.T367fs
c.1099_1100fs
14 papers
NM_018062.4
p.I336_C337del1
c.1007_1009delATA
13 papers
NM_018062.4
p.M1T
c.2T>C
11 papers
NM_018062.4
p.T367fs
c.1099_1100fs
10 papers
NM_018062.4
p.T224A
c.670A>G
10 papers
NM_018062.4
p.K364K
c.1092G>A
9 papers
NM_018062.4
p.L38F
c.112C>T
9 papers
NM_018062.4
p.L80V
c.238C>G
9 papers
NM_018062.4
p.K96N
c.288G>T
9 papers
NM_018062.4
p.P332P
c.996T>C
8 papers
NM_018062.4
p.R68P
c.203G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."