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.R1133Q

c.3398G>A

Surrounding Variants

1 paper

NM_018263.6

p.R1133W

c.3397C>T

2 papers

NM_018263.6

p.G1134S

c.3400G>A

1 paper

NM_018263.6

p.L1125*

c.3374T>G

1 paper

NM_018263.6

p.L1125*

c.3374T>A

1 paper

NM_018263.6

p.E1147fs

c.3439_3440fs

1 paper

NM_018263.6

p.A1119T

c.3355G>A

1 paper

NM_018263.6

p.E1147_D1148delFs

c.3440_3444del5

1 paper

NM_018263.6

p.R1149delFs

c.3445delG

1 paper

NM_018263.6

p.R1149fs

c.3445_3446fs

1 paper

NM_018263.6

p.S1116C

c.3347C>G

1 paper

NM_018263.6

p.S1153G

c.3457A>G

1 paper

NM_018263.6

p.R1113K

c.3338G>A