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.A1205S

c.3613G>T

Surrounding Variants

1 paper

NM_018263.6

p.G1208V

c.3623G>T

1 paper

NM_018263.6

p.P1199S

c.3595C>T

1 paper

NM_018263.6

p.P1199insFs

c.3595_3596ins4

1 paper

NM_018263.6

p.G1206_T1210del5

c.3616_3629del15

1 paper

NM_018263.6

p.E1198K

c.3592G>A

1 paper

NM_018263.6

p.S1212*

c.3635C>G

1 paper

NM_018263.6

p.S1212*

c.3635C>A

1 paper

NM_018263.6

p.P1214A

c.3640C>G

1 paper

NM_018263.6

p.E1191K

c.3571G>A

1 paper

NM_018263.6

p.Q1190L

c.3569A>T

1 paper

NM_018263.6

p.L1220fs

c.3658_3659fs

1 paper

NM_018263.6

p.L1220fs

c.3658_3659fs