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.A225G

c.674C>G

Surrounding Variants

1 paper

NM_018062.4

p.A225S

c.673G>T

3 papers

NM_018062.4

p.R226C

c.676C>T

1 paper

NM_018062.4

p.R226S

c.676C>A

1 paper

NM_018062.4

p.A225delFs

c.675delT

1 paper

NM_018062.4

p.R226H

c.677G>A

3 papers

NM_018062.4

p.T224K

c.671C>A

11 papers

NM_018062.4

p.T224A

c.670A>G

NM_001114636.2

p.T229A

c.685A>G

1 paper

NM_018062.4

p.T224ins1

c.670_671insTTT

1 paper

NM_001114636.2

p.R232*

c.694A>T

1 paper

NM_018062.4

p.R227I

c.680G>T

1 paper

NM_018062.4

p.R227K

c.680G>A

1 paper

NM_018062.4

p.R227S

c.681A>T