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.T656_D659delFs

c.1966_1976del11

Surrounding Variants

1 paper

NM_018263.6

p.D659N

c.1975G>A

1 paper

NM_018263.6

p.A658insFs

c.1973dupC

2 papers

NM_018263.6

p.A658fs

c.1972_1973fs

1 paper

NM_018263.6

p.A658insFs

c.1972dupG

1 paper

NM_018263.6

p.L657_A658insFs

c.1971_1972insTG

1 paper

NM_018263.6

p.K661E

c.1981A>G

1 paper

NM_018263.6

p.D659_I660del2

c.1975_1979del6

1 paper

NM_018263.6

p.A658S

c.1972G>T

2 papers

NM_018263.6

p.A658fs

c.1972_1973fs

1 paper

NM_018263.6

p.L657_A658insFs

c.1971_1972ins4

1 paper

NM_018263.6

p.T656fs

c.1966_1967fs

1 paper

NM_018263.6

p.T656insFs

c.1966dupA