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.G1162delFs

c.3484_3485delCC

Surrounding Variants

1 paper

NM_018263.6

p.Y1163C

c.3488A>G

1 paper

NM_018263.6

p.Y1163*

c.3489T>G

1 paper

NM_018263.6

p.Y1163*

c.3489T>A

1 paper

NM_018263.6

p.M1161fs

c.3481_3482fs

1 paper

NM_018263.6

p.S1153G

c.3457A>G

1 paper

NM_018263.6

p.E1172fs

c.3514_3515fs

1 paper

NM_018263.6

p.E1172delFs

c.3515delT

1 paper

NM_018263.6

p.R1149fs

c.3445_3446fs

1 paper

NM_018263.6

p.R1149delFs

c.3445delG

1 paper

NM_018263.6

p.S1176Fs

c.3527delinsATFs

1 paper

NM_018263.6

p.E1147_D1148delFs

c.3440_3444del5

1 paper

NM_018263.6

p.S1176fs

c.3526_3527fs