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

2 papers

NM_018263.6

p.P1314R

c.3941C>G

Surrounding Variants

2 papers

NM_018263.6

p.G1318E

c.3953G>A

1 paper

NM_018263.6

p.P1310L

c.3929C>T

1 paper

NM_018263.6

p.P1309L

c.3926C>T

1 paper

NM_018263.6

p.P1309_P1310insC

c.3925_3929ins3

1 paper

NM_018263.6

p.L1306_L1307ins4

c.3916_3920ins12

1 paper

NM_018263.6

p.L1306_L1307ins6

c.3916_3920ins18

1 paper

NM_018263.6

p.H1303N

c.3907C>A

1 paper

NM_018263.6

p.S1326_Y1327insC

c.3976_3980ins3

3 papers

NM_018263.6

p.T1302P

c.3904A>C

1 paper

NM_018263.6

p.Y1327H

c.3979T>C

3 papers

NM_018263.6

p.S1300R

c.3900C>G

2 papers

NM_018263.6

p.S1300R

c.3900C>A