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.P409fs

c.1225_1226fs

Surrounding Variants

1 paper

NM_018263.6

p.Q408insFs

c.1224dupA

1 paper

NM_018263.6

p.P409fs

c.1225_1226fs

1 paper

NM_018263.6

p.Q408*

c.1222C>T

4 papers

NM_018263.6

p.P409_K410delFs

c.1225_1228del4

1 paper

NM_018263.6

p.K410fs

c.1228_1229fs

3 papers

NM_018263.6

p.E407*

c.1219G>T

3 papers

NM_018263.6

p.A406insFs

c.1217dupC

1 paper

NM_018263.6

p.P413S

c.1237C>T

1 paper

NM_018263.6

p.K402_T404delFs

c.1206_1210del5

1 paper

NM_018263.6

p.V414delFs

c.1240delC

1 paper

NM_018263.6

p.K402fs

c.1204_1205fs

1 paper

NM_018263.6

p.V401fs

c.1201_1202fs