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.H1055H

c.3165C>T

Surrounding Variants

1 paper

NM_018263.6

p.H1052Y

c.3154C>T

2 papers

NM_018263.6

p.K1060R

c.3179A>G

2 papers

NM_018263.6

p.Q1063*

c.3187C>T

1 paper

NM_018263.6

p.R1045K

c.3134G>A

1 paper

NM_018263.6

p.I1071V

c.3211A>G

1 paper

NM_018263.6

p.Q1037fs

c.3109_3110fs

1 paper

NM_018263.6

p.R1075W

c.3223C>T

1 paper

NM_018263.6

p.R1075G

c.3223C>G

2 papers

NM_018263.6

p.R1075Q

c.3224G>A

1 paper

NM_018263.6

p.L1036F

c.3106C>T

1 paper

NM_018263.6

p.R1076K

c.3227G>A

1 paper

NM_018263.6

p.Q1077E

c.3229C>G