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.P399delFs

c.1197delG

Surrounding Variants

3 papers

NM_018263.6

p.D398fs

c.1192_1193fs

1 paper

NM_018263.6

p.D398insFs

c.1192dupG

1 paper

NM_018263.6

p.V401fs

c.1201_1202fs

2 papers

NM_018263.6

p.D398Y

c.1192G>T

1 paper

NM_018263.6

p.K402fs

c.1204_1205fs

1 paper

NM_018263.6

p.K402_T404delFs

c.1206_1210del5

3 papers

NM_018263.6

p.A406insFs

c.1217dupC

3 papers

NM_018263.6

p.E407*

c.1219G>T

2 papers

NM_018263.6

p.L392*

c.1175T>A

1 paper

NM_018263.6

p.Q408*

c.1222C>T

1 paper

NM_018263.6

p.K391R

c.1172A>G

1 paper

NM_018263.6

p.Q408insFs

c.1224dupA