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.K391R

c.1172A>G

Surrounding Variants

2 papers

NM_018263.6

p.L392*

c.1175T>A

1 paper

NM_018263.6

p.K390R

c.1169A>G

1 paper

NM_018263.6

p.S389delFs

c.1165delA

1 paper

NM_018263.6

p.S389P

c.1165T>C

1 paper

NM_018263.6

p.S389fs

c.1165_1166fs

1 paper

NM_018263.6

p.D388N

c.1162G>A

2 papers

NM_018263.6

p.D398Y

c.1192G>T

1 paper

NM_018263.6

p.D398insFs

c.1192dupG

3 papers

NM_018263.6

p.D398fs

c.1192_1193fs

1 paper

NM_018263.6

p.P399delFs

c.1197delG

1 paper

NM_018263.6

p.S382C

c.1145C>G

1 paper

NM_018263.6

p.V401fs

c.1201_1202fs