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.T740insFs

c.2219_2220ins4

Surrounding Variants

2 papers

NM_018263.6

p.T740M

c.2219C>T

1 paper

NM_018263.6

p.T740Fs

c.2219delinsGGTFs

1 paper

NM_018263.6

p.T740Fs

c.2219delinsAATCTFs

1 paper

NM_018263.6

p.T740R

c.2219C>G

1 paper

NM_018263.6

p.T740insFs

c.2219_2220ins7

4 papers

NM_018263.6

p.T740insFs

c.2218dupA

1 paper

NM_018263.6

p.T740insFs

c.2218_2219ins4

1 paper

NM_018263.6

p.S736_T740Fs

c.2208_2219delinsAGTGGGTFs

1 paper

NM_018263.6

p.T740Fs

c.2220delinsCTFs

1 paper

NM_018263.6

p.T740_R741insFs

c.2220_2221ins7

1 paper

NM_018263.6

p.T740insFs

c.2219dupC

5 papers

NM_018263.6

p.T740fs

c.2218_2219fs