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.R421_I422insFs

c.1263_1264ins5

Surrounding Variants

1 paper

NM_018263.6

p.L419_I420delFs

c.1256_1260del5

1 paper

NM_018263.6

p.L419_I420del2

c.1255_1259del6

1 paper

NM_018263.6

p.I420fs

c.1258_1259fs

1 paper

NM_018263.6

p.I422fs

c.1264_1265fs

2 papers

NM_018263.6

p.I420insFs

c.1258_1259insA

1 paper

NM_018263.6

p.I420insFs

c.1258_1259ins4

1 paper

NM_018263.6

p.L419ins2

c.1255_1256ins6

5 papers

NM_018263.6

p.P424fs

c.1270_1271fs

1 paper

NM_018263.6

p.P424delFs

c.1271delG

1 paper

NM_018263.6

p.P409_P424delins

c.1227_1272delinsA

1 paper

NM_018263.6

p.A417fs

c.1249_1250fs

1 paper

NM_018263.6

p.E416insFs

c.1247_1248dupAG