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.M977_K978delFs

c.2930_2934del5

Surrounding Variants

1 paper

NM_018263.6

p.K978N

c.2934A>T

1 paper

NM_018263.6

p.K978N

c.2934A>C

1 paper

NM_018263.6

p.M977I

c.2931G>A

1 paper

NM_018263.6

p.M977fs

c.2929_2930fs

1 paper

NM_018263.6

p.T983S

c.2948C>G

1 paper

NM_018263.6

p.A984V

c.2951C>T

1 paper

NM_018263.6

p.E987*

c.2959G>T

1 paper

NM_018263.6

p.E987fs

c.2959_2960fs

1 paper

NM_018263.6

p.P969fs

c.2905_2906fs

1 paper

NM_018263.6

p.P969fs

c.2905_2906fs

1 paper

NM_018263.6

p.G989R

c.2965G>C

1 paper

NM_018263.6

p.G989R

c.2965G>A