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.A876V

c.2627C>T

Surrounding Variants

1 paper

NM_018263.6

p.K873fs

c.2617_2618fs

1 paper

NM_018263.6

p.K873fs

c.2617_2618fs

1 paper

NM_018263.6

p.S869delFs

c.2606delG

1 paper

NM_018263.6

p.S869*

c.2606C>G

1 paper

NM_018263.6

p.S869*

c.2606C>A

1 paper

NM_018263.6

p.S885fs

c.2653_2654fs

1 paper

NM_018263.6

p.S885F

c.2654C>T

1 paper

NM_018263.6

p.S885_P886delFs

c.2653_2656del4

1 paper

NM_018263.6

p.T895S

c.2683A>T

1 paper

NM_018263.6

p.T895S

c.2684C>G

1 paper

NM_018263.6

p.L899F

c.2695C>T

1 paper

NM_018263.6

p.G853S

c.2557G>A