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

3 papers

NM_018263.6

p.Q547R

c.1640A>G

Surrounding Variants

1 paper

NM_018263.6

p.A544insFs

c.1630_1631ins5

1 paper

NM_018263.6

p.A542G

c.1625C>G

1 paper

NM_018263.6

p.T541P

c.1621A>C

1 paper

NM_018263.6

p.P554L

c.1661C>T

1 paper

NM_018263.6

p.L555V

c.1663C>G

1 paper

NM_018263.6

p.K539E

c.1615A>G

1 paper

NM_018263.6

p.K535delFs

c.1605delT

1 paper

NM_018263.6

p.A556_V559delFs

c.1666_1676del11

1 paper

NM_018263.6

p.S562C

c.1684A>T

1 paper

NM_018263.6

p.P531fs

c.1591_1592fs

1 paper

NM_018263.6

p.S526fs

c.1576_1577fs

1 paper

NM_018263.6

p.S526N

c.1577G>A