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.Y512*

c.1536T>A

Surrounding Variants

1 paper

NM_018263.6

p.Y512fs

c.1534_1535fs

1 paper

NM_018263.6

p.Y512*

c.1536T>G

1 paper

NM_018263.6

p.Y512insFs

c.1534_1535insT

1 paper

NM_018263.6

p.K514_S515insFs

c.1542_1543ins4

1 paper

NM_018263.6

p.E516fs

c.1546_1547fs

1 paper

NM_018263.6

p.T507fs

c.1519_1520fs

1 paper

NM_018263.6

p.E519*

c.1555G>T

1 paper

NM_018263.6

p.E519_S520insFs

c.1557_1558ins7

1 paper

NM_018263.6

p.S520fs

c.1558_1559fs

1 paper

NM_018263.6

p.N504insFs

c.1511dupA

1 paper

NM_018263.6

p.L521fs

c.1561_1562fs

1 paper

NM_018263.6

p.N504fs

c.1510_1511fs