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.E5insFs

c.14_15insT

Surrounding Variants

2 papers

NM_018062.4

p.E5Q

c.13G>C

1 paper

NM_018062.4

p.M1_T4del4

c.1_11del12

1 paper

NM_018062.4

p.E5fs

c.13_14fs

1 paper

NM_018062.4

p.A2_E5del0

c.6_14del9

3 papers

NM_018062.4

p.T4T

c.12G>C

3 papers

NM_018062.4

p.T4T

c.12G>A

2 papers

NM_018062.4

p.A6V

c.17C>T

1 paper

NM_018062.4

p.T4A

c.10A>G

1 paper

NM_018062.4

p.T4insFs

c.10_11ins5

1 paper

NM_018062.4

p.V3V

c.9G>T

1 paper

NM_018062.4

p.S7G

c.19A>G

2 papers

NM_018062.4

p.S7R

c.19A>C