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.W581R

c.1741T>C

Surrounding Variants

1 paper

NM_018263.6

p.W581R

c.1741T>A

1 paper

NM_018263.6

p.V579G

c.1736T>G

1 paper

NM_018263.6

p.V579M

c.1735G>A

2 papers

NM_018263.6

p.E576*

c.1726G>T

1 paper

NM_018263.6

p.R586insFs

c.1757_1758ins4

3 papers

NM_018263.6

p.R586fs

c.1756_1757fs

1 paper

NM_018263.6

p.V587fs

c.1759_1760fs

1 paper

NM_018263.6

p.R586_V587Fs

c.1758_1760delinsGAGAFs

1 paper

NM_018263.6

p.V587fs

c.1759_1760fs

1 paper

NM_018263.6

p.T573I

c.1718C>T

1 paper

NM_018263.6

p.E589K

c.1765G>A

1 paper

NM_018263.6

p.N590_R591insFs

c.1770_1771ins7