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.V1333I

c.3997G>A

Surrounding Variants

1 paper

NM_018263.6

p.I1331_T1335del5

c.3991_4004del15

1 paper

NM_018263.6

p.S1337S

c.4011T>A

1 paper

NM_018263.6

p.D1338H

c.4012G>C

1 paper

NM_018263.6

p.Y1327H

c.3979T>C

1 paper

NM_018263.6

p.S1326_Y1327insC

c.3976_3980ins3

1 paper

NM_018263.6

p.V1345I

c.4033G>A

2 papers

NM_018263.6

p.G1318E

c.3953G>A

2 papers

NM_018263.6

p.P1314R

c.3941C>G

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.S1359*

c.4076C>G