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.V314delFs

c.940delC

Surrounding Variants

1 paper

NM_018263.6

p.V314fs

c.940_941fs

1 paper

NM_018263.6

p.M320V

c.958A>G

1 paper

NM_018263.6

p.M320I

c.960G>T

1 paper

NM_018263.6

p.M320I

c.960G>C

1 paper

NM_018263.6

p.M320I

c.960G>A

2 papers

NM_018263.6

p.E330Q

c.988G>C

5 papers

NM_018263.6

p.E330K

c.988G>A

2 papers

NM_018263.6

p.E330D

c.990A>T

2 papers

NM_018263.6

p.E330D

c.990A>C

1 paper

NM_018263.6

p.F331delFs

c.991delA

1 paper

NM_018263.6

p.A335Fs

c.1003delinsGAFs

1 paper

NM_018263.6

p.K340R

c.1019A>G