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.E340_W341Splc

c.1021-2A>T

Surrounding Variants

5 papers

NM_018062.4

p.W341G

c.1021T>G

1 paper

NM_018062.4

p.W341R

c.1021T>C

1 paper

NM_018062.4

p.W341R

c.1021T>A

1 paper

NM_018062.4

p.W341C

c.1023G>T

1 paper

NM_018062.4

p.L342V

c.1024C>G

1 paper

NM_018062.4

p.L342M

c.1024C>A

1 paper

NM_018062.4

p.W341delFs

c.1022_1023delCC

1 paper

NM_018062.4

p.L342Q

c.1025T>A

4 papers

NM_018062.4

p.W341_L342del1

c.1022_1024delGCC

1 paper

NM_018062.4

p.S348T

c.1043G>C

1 paper

NM_018062.4

p.S348_R349insFs

c.1044_1045insA

8 papers

NM_018062.4

p.Q350fs

c.1048_1049fs