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.S117delFs

c.350delC

Surrounding Variants

1 paper

NM_018263.6

p.S117fs

c.349_350fs

1 paper

NM_018263.6

p.S116delFs

c.347_348delGC

5 papers

NM_018263.6

p.S114del1

c.340_341delGCT

2 papers

NM_018263.6

p.S118del1

c.352_353delACT

2 papers

NM_018263.6

p.S117_S118del2

c.349_353del6

1 paper

NM_018263.6

p.S116fs

c.346_347fs

1 paper

NM_018263.6

p.E112A

c.335A>C

1 paper

NM_018263.6

p.E112*

c.334G>T

1 paper

NM_018263.6

p.S111Y

c.332C>A

1 paper

NM_018263.6

p.S110C

c.328A>T

1 paper

NM_018263.6

p.S108F

c.323C>T

3 papers

NM_018263.6

p.K127R

c.380A>G