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.S714C

c.2140A>T

Surrounding Variants

1 paper

NM_018263.6

p.S714fs

c.2140_2141fs

1 paper

NM_018263.6

p.P715A

c.2143C>G

1 paper

NM_018263.6

p.G716_S717insFs

c.2148_2149insAT

1 paper

NM_018263.6

p.R711G

c.2131A>G

2 papers

NM_018263.6

p.S714_D718delFs

c.2142_2152del11

1 paper

NM_018263.6

p.T709I

c.2126C>T

1 paper

NM_018263.6

p.D718fs

c.2152_2153fs

1 paper

NM_018263.6

p.R719delins

c.2155_2156delinsCC

1 paper

NM_018263.6

p.Q708K

c.2122C>A

1 paper

NM_018263.6

p.R719_V720delFs

c.2157_2158delCT

1 paper

NM_018263.6

p.G707R

c.2119G>C

1 paper

NM_018263.6

p.G707R

c.2119G>A