Varaico: Literature-Extracted Genetic Variants

ASXL2

363 papers

RefSeq Summary

This gene encodes a member of a family of epigenetic regulators that bind various histone-modifying enzymes and are involved in the assembly of transcription factors at specific genomic loci. Naturall...

Pfam Domains

HARE-HTHaa 11–83UCSCHB1, ASXL, restriction endonuclease HTH domain

ASXHaa 255–380UCSCAsx homology domain

PHD_3aa 1373–1433UCSCPHD domain of transcriptional enhancer, Asx

Gene Aliases

HGNC Name

ASXL transcriptional regulator 2

HGNC Alias Symbols

ASXH2; FLJ10898; KIAA1685

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018263.6

p.A677G

c.2030C>G

Surrounding Variants

1 paper

NM_018263.6

p.A677V

c.2030C>T

1 paper

NM_018263.6

p.A676_A677ins2

c.2028_2029ins6

1 paper

NM_018263.6

p.A676T

c.2026G>A

1 paper

NM_018263.6

p.A677_A679ins1

c.2031_2036dup6

1 paper

NM_018263.6

p.R671K

c.2012G>A

1 paper

NM_018263.6

p.Q670delFs

c.2008_2009delTG

1 paper

NM_018263.6

p.Q670*

c.2008C>T

1 paper

NM_018263.6

p.A669_Q670insFs

c.2007_2008insGT

1 paper

NM_018263.6

p.A669G

c.2006C>G

1 paper

NM_018263.6

p.A669insFs

c.2005_2006ins4

1 paper

NM_018263.6

p.A669T

c.2005G>A

2 papers

NM_018263.6

p.V686L

c.2056G>C