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.P695_G696insFs

c.2085_2086insG

Surrounding Variants

4 papers

NM_018263.6

p.G696fs

c.2086_2087fs

6 papers

NM_018263.6

p.G694insFs

c.2081dupG

1 paper

NM_018263.6

p.G697fs

c.2089_2090fs

1 paper

NM_018263.6

p.G697delFs

c.2090delC

1 paper

NM_018263.6

p.G698R

c.2092G>C

1 paper

NM_018263.6

p.G698R

c.2092G>A

1 paper

NM_018263.6

p.P693S

c.2077C>T

1 paper

NM_018263.6

p.G692V

c.2075G>T

1 paper

NM_018263.6

p.G700S

c.2098G>A

1 paper

NM_018263.6

p.P691S

c.2071C>T

1 paper

NM_018263.6

p.P691A

c.2071C>G

1 paper

NM_018263.6

p.P701L

c.2102C>T