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.A2V

c.5C>T

Surrounding Variants

1 paper

NM_018062.4

p.M1_A2delFs

c.1_4del4

3 papers

NM_018062.4

p.A2S

c.4G>T

2 papers

NM_018062.4

p.A2T

c.4G>A

1 paper

NM_018062.4

p.V3L

c.7G>T

1 paper

NM_018062.4

p.M1I

c.3G>T

1 paper

NM_018062.4

p.M1_A2insFs

c.3_4insA

1 paper

NM_018062.4

p.V3L

c.7G>C

1 paper

NM_018062.4

p.M1I

c.3G>A

13 papers

NM_018062.4

p.M1T

c.2T>C

1 paper

NM_018062.4

p.M1K

c.2T>A

1 paper

NM_018062.4

p.V3V

c.9G>T

4 papers

NM_018062.4

p.M1L

c.1A>T