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.H593Q

c.1779C>G

Surrounding Variants

1 paper

NM_018263.6

p.H593_Q594insFs

c.1779_1780insA

1 paper

NM_018263.6

p.H593Q

c.1779C>A

1 paper

NM_018263.6

p.Q594fs

c.1780_1781fs

1 paper

NM_018263.6

p.R591_H593delins

c.1773_1777delinsGCTCCTGAGAGGGG

2 papers

NM_018263.6

p.Q592fs

c.1774_1775fs

1 paper

NM_018263.6

p.Q594insFs

c.1781dupA

1 paper

NM_018263.6

p.R591insFs

c.1772_1773ins7

2 papers

NM_018263.6

p.R591insFs

c.1772_1773ins4

1 paper

NM_018263.6

p.Q592insFs

c.1774_1775ins4

2 papers

NM_018263.6

p.Q592fs

c.1774_1775fs

2 papers

NM_018263.6

p.Q592*

c.1774C>T

1 paper

NM_018263.6

p.Q595fs

c.1783_1784fs