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

3 papers

NM_018263.6

p.K127R

c.380A>G

Surrounding Variants

1 paper

NM_018263.6

p.K128fs

c.382_383fs

1 paper

NM_018263.6

p.S129fs

c.385_386fs

1 paper

NM_018263.6

p.K132E

c.394A>G

1 paper

NM_018263.6

p.K132Q

c.394A>C

1 paper

NM_018263.6

p.K132R

c.395A>G

1 paper

NM_018263.6

p.K134N

c.402A>T

1 paper

NM_018263.6

p.K134N

c.402A>C

2 papers

NM_018263.6

p.S118del1

c.352_353delACT

2 papers

NM_018263.6

p.S117_S118del2

c.349_353del6

5 papers

NM_018263.6

p.S114del1

c.340_341delGCT

1 paper

NM_018263.6

p.S117delFs

c.350delC

1 paper

NM_018263.6

p.S117fs

c.349_350fs