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.A732_G735delFs

c.2195_2204del10

Surrounding Variants

1 paper

NM_018263.6

p.S736fs

c.2206_2207fs

1 paper

NM_018263.6

p.S736S

c.2208C>T

1 paper

NM_018263.6

p.R737K

c.2210G>A

1 paper

NM_018263.6

p.T734A

c.2200A>G

1 paper

NM_018263.6

p.G733*

c.2197G>T

1 paper

NM_018263.6

p.G738_G739insFs

c.2214_2215insTC

1 paper

NM_018263.6

p.A732fs

c.2194_2195fs

1 paper

NM_018263.6

p.G739insFs

c.2216_2217ins4

2 papers

NM_018263.6

p.T740fs

c.2218_2219fs

1 paper

NM_018263.6

p.T740insFs

c.2218_2219ins4

2 papers

NM_018263.6

p.T740M

c.2219C>T

1 paper

NM_018263.6

p.T740Fs

c.2219delinsGGTFs