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

8 papers

NM_018263.6

p.R614*

c.1840C>T

Surrounding Variants

2 papers

NM_018263.6

p.R614Q

c.1841G>A

1 paper

NM_018263.6

p.V616fs

c.1846_1847fs

1 paper

NM_018263.6

p.R610insFs

c.1830dupA

1 paper

NM_018263.6

p.R610I

c.1829G>T

1 paper

NM_018263.6

p.R614_L619delFs

c.1842_1855del14

1 paper

NM_018263.6

p.L605delFs

c.1814_1815delGA

1 paper

NM_018263.6

p.Q602R

c.1805A>G

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.S600_P601insFs

c.1800_1801ins7

1 paper

NM_018263.6

p.E582_Q598ins5

c.1746_1793dup48

1 paper

NM_018263.6

p.Q598delFs

c.1792_1793delTG