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.P793fs

c.2377_2378fs

Surrounding Variants

1 paper

NM_018263.6

p.A796T

c.2386G>A

1 paper

NM_018263.6

p.I798V

c.2392A>G

1 paper

NM_018263.6

p.V785insFs

c.2353_2354ins14

1 paper

NM_018263.6

p.V785fs

c.2353_2354fs

1 paper

NM_018263.6

p.N803S

c.2408A>G

1 paper

NM_018263.6

p.P781P

c.2343A>T

1 paper

NM_018263.6

p.L806R

c.2417T>G

1 paper

NM_018263.6

p.V779fs

c.2335_2336fs

1 paper

NM_018263.6

p.V779fs

c.2335_2336fs

3 papers

NM_018263.6

p.P778insFs

c.2333_2334insC

2 papers

NM_018263.6

p.P778fs

c.2332_2333fs

1 paper

NM_018263.6

p.P778delFs

c.2333delG