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.I480M

c.1440C>G

Surrounding Variants

1 paper

NM_018263.6

p.P483S

c.1447C>T

2 papers

NM_018263.6

p.P483R

c.1448C>G

1 paper

NM_018263.6

p.Q491*

c.1471C>T

1 paper

NM_018263.6

p.A468T

c.1402G>A

1 paper

NM_018263.6

p.S467*

c.1400C>G

2 papers

NM_018263.6

p.S467*

c.1400C>A

1 paper

NM_018263.6

p.S496F

c.1487C>T

4 papers

NM_018263.6

p.A497T

c.1489G>A

1 paper

NM_018263.6

p.P463fs

c.1387_1388fs

1 paper

NM_018263.6

p.P463R

c.1388C>G

1 paper

NM_018263.6

p.P463insFs

c.1387_1388ins4

1 paper

NM_018263.6

p.Q499fs

c.1495_1496fs