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

9 papers

NM_018062.4

p.K96N

c.288G>T

Surrounding Variants

8 papers

NM_018062.4

p.K96N

c.288G>C

1 paper

NM_018062.4

p.K96K

c.288G>A

1 paper

NM_018062.4

p.N97Y

c.289A>T

1 paper

NM_018062.4

p.K96*

c.286A>T

2 papers

NM_018062.4

p.Q99*

c.295C>T

3 papers

NM_018062.4

p.Q99fs

c.295_296fs

1 paper

NM_018062.4

p.Q99delFs

c.295delG

1 paper

NM_018062.4

p.V93V

c.279T>A

5 papers

NM_018062.4

p.Q99fs

c.295_296fs

1 paper

NM_018062.4

p.Q99delFs

c.295_296delTG

1 paper

NM_018062.4

p.E100*

c.298G>T

8 papers

NM_018062.4

p.Q99delFs

c.296_297delTT