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.Q1019*

c.3055C>T

Surrounding Variants

1 paper

NM_018263.6

p.Q1018H

c.3054G>T

1 paper

NM_018263.6

p.Q1018H

c.3054G>C

1 paper

NM_018263.6

p.G1021D

c.3062G>A

1 paper

NM_018263.6

p.T1023I

c.3068C>T

1 paper

NM_018263.6

p.L1024insFs

c.3071_3072insT

1 paper

NM_018263.6

p.L1024fs

c.3070_3071fs

1 paper

NM_018263.6

p.S1012insFs

c.3034_3035insT

2 papers

NM_018263.6

p.Q1028*

c.3082C>T

1 paper

NM_018263.6

p.Q1031K

c.3091C>A

1 paper

NM_018263.6

p.Q1031R

c.3092A>G

1 paper

NM_018263.6

p.E1005*

c.3013G>T

1 paper

NM_018263.6

p.L1036F

c.3106C>T