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.N949K

c.2847T>A

Surrounding Variants

1 paper

NM_018263.6

p.N949K

c.2847T>G

1 paper

NM_018263.6

p.Q955R

c.2864A>G

1 paper

NM_018263.6

p.T943S

c.2828C>G

1 paper

NM_018263.6

p.T943S

c.2827A>T

1 paper

NM_018263.6

p.T939_L940insFs

c.2817_2818ins4

1 paper

NM_018263.6

p.T939fs

c.2815_2816fs

1 paper

NM_018263.6

p.K960delFs

c.2878_2879delTT

1 paper

NM_018263.6

p.N936D

c.2806A>G

1 paper

NM_018263.6

p.N934fs

c.2800_2801fs

1 paper

NM_018263.6

p.I967M

c.2901T>G

1 paper

NM_018263.6

p.L968insFs

c.2902_2903dupCT

1 paper

NM_018263.6

p.P969fs

c.2905_2906fs