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.K444fs

c.1330_1331fs

Surrounding Variants

1 paper

NM_018263.6

p.R443fs

c.1327_1328fs

1 paper

NM_018263.6

p.G442_R443insFs

c.1326_1327insC

1 paper

NM_018263.6

p.K444_E445delFs

c.1331_1335del5

1 paper

NM_018263.6

p.E446insFs

c.1337dupA

1 paper

NM_018263.6

p.E448G

c.1343A>G

2 papers

NM_018263.6

p.S439*

c.1316C>G

2 papers

NM_018263.6

p.S439*

c.1316C>A

1 paper

NM_018263.6

p.Q437fs

c.1309_1310fs

1 paper

NM_018263.6

p.Q437insFs

c.1309_1310insC

1 paper

NM_018263.6

p.Q437*

c.1309C>T

1 paper

NM_018263.6

p.L436S

c.1307T>C

1 paper

NM_018263.6

p.L436*

c.1307T>A