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.L91F

c.273G>T

Surrounding Variants

1 paper

NM_018062.4

p.L91F

c.273G>C

1 paper

NM_018062.4

p.L91insFs

c.271_272insTA

1 paper

NM_018062.4

p.L91_E92Splc

c.273+2T>G

1 paper

NM_018062.4

p.L90fs

c.268_269fs

6 papers

NM_018062.4

p.L90delFs

c.268delG

4 papers

NM_018062.4

p.L90fs

c.268_269fs

1 paper

NM_018062.4

p.L90F

c.268C>T

2 papers

NM_018062.4

p.L90V

c.268C>G

1 paper

NM_018062.4

p.M89I

c.267G>T

1 paper

NM_018062.4

p.M89I

c.267G>C

1 paper

NM_018062.4

p.M89I

c.267G>A

1 paper

NM_018062.4

p.K88del1

c.262_263delCTT