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.R568delFs

c.1704delC

Surrounding Variants

1 paper

NM_018263.6

p.S570insFs

c.1709_1710insC

1 paper

NM_018263.6

p.T573I

c.1718C>T

2 papers

NM_018263.6

p.E576*

c.1726G>T

1 paper

NM_018263.6

p.S562C

c.1684A>T

1 paper

NM_018263.6

p.A556_V559delFs

c.1666_1676del11

1 paper

NM_018263.6

p.V579M

c.1735G>A

1 paper

NM_018263.6

p.V579G

c.1736T>G

1 paper

NM_018263.6

p.W581R

c.1741T>C

1 paper

NM_018263.6

p.W581R

c.1741T>A

1 paper

NM_018263.6

p.L555V

c.1663C>G

1 paper

NM_018263.6

p.P554L

c.1661C>T

1 paper

NM_018263.6

p.R586insFs

c.1757_1758ins4