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.P413S

c.1237C>T

Surrounding Variants

1 paper

NM_018263.6

p.V414delFs

c.1240delC

1 paper

NM_018263.6

p.K410fs

c.1228_1229fs

4 papers

NM_018263.6

p.P409_K410delFs

c.1225_1228del4

1 paper

NM_018263.6

p.P409fs

c.1225_1226fs

1 paper

NM_018263.6

p.E416_A417insFs

c.1248_1249insAG

1 paper

NM_018263.6

p.E416insFs

c.1247_1248dupAG

1 paper

NM_018263.6

p.Q408insFs

c.1224dupA

3 papers

NM_018263.6

p.P409fs

c.1225_1226fs

1 paper

NM_018263.6

p.A417fs

c.1249_1250fs

1 paper

NM_018263.6

p.Q408*

c.1222C>T

3 papers

NM_018263.6

p.E407*

c.1219G>T

1 paper

NM_018263.6

p.L419ins2

c.1255_1256ins6