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.G989R

c.2965G>C

Surrounding Variants

1 paper

NM_018263.6

p.G989R

c.2965G>A

3 papers

NM_018263.6

p.K985_G989Fs

c.2955_2967delinsGGAAAGGGGGAFs

1 paper

NM_018263.6

p.K985_G989Fs

c.2955_2967delinsGGAAAFs

1 paper

NM_018263.6

p.E987*

c.2959G>T

3 papers

NM_018263.6

p.G991fs

c.2971_2972fs

1 paper

NM_018263.6

p.E987fs

c.2959_2960fs

1 paper

NM_018263.6

p.G991fs

c.2971_2972fs

5 papers

NM_018263.6

p.G991_A992delFs

c.2971_2974del4

1 paper

NM_018263.6

p.A984V

c.2951C>T

1 paper

NM_018263.6

p.T983S

c.2948C>G

2 papers

NM_018263.6

p.A995T

c.2983G>A

2 papers

NM_018263.6

p.T998I

c.2993C>T