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.Q598delFs

c.1792_1793delTG

Surrounding Variants

1 paper

NM_018263.6

p.E582_Q598ins5

c.1746_1793dup48

1 paper

NM_018263.6

p.Q598fs

c.1792_1793fs

5 papers

NM_018263.6

p.Q598*

c.1792C>T

1 paper

NM_018263.6

p.S600_P601insFs

c.1800_1801ins7

1 paper

NM_018263.6

p.P601A

c.1801C>G

1 paper

NM_018263.6

p.P601fs

c.1801_1802fs

1 paper

NM_018263.6

p.Q595fs

c.1783_1784fs

1 paper

NM_018263.6

p.Q602R

c.1805A>G

1 paper

NM_018263.6

p.Q594insFs

c.1781dupA

1 paper

NM_018263.6

p.Q594fs

c.1780_1781fs

1 paper

NM_018263.6

p.H593Q

c.1779C>G

1 paper

NM_018263.6

p.H593_Q594insFs

c.1779_1780insA