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.Q428insFs

c.1283_1284insT

Surrounding Variants

1 paper

NM_018263.6

p.Q428*

c.1282C>T

2 papers

NM_018263.6

p.S427_S429Fs

c.1280_1286delinsTCAGAGAGTFs

1 paper

NM_018263.6

p.S427_S429Fs

c.1279_1286delinsCGAFs

1 paper

NM_018263.6

p.S427fs

c.1279_1280fs

1 paper

NM_018263.6

p.S429fs

c.1285_1286fs

3 papers

NM_018263.6

p.E430*

c.1288G>T

1 paper

NM_018263.6

p.V426V

c.1278C>T

1 paper

NM_018263.6

p.P409_P424delins

c.1227_1272delinsA

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.K432fs

c.1294_1295fs

1 paper

NM_018263.6

p.C431_K432insFs

c.1293_1294ins4