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.V815_A816delins

c.2445_2446delinsGC

Surrounding Variants

1 paper

NM_018263.6

p.A816S

c.2446G>T

1 paper

NM_018263.6

p.H820R

c.2459A>G

1 paper

NM_018263.6

p.P821L

c.2462C>T

3 papers

NM_018263.6

p.T809fs

c.2425_2426fs

4 papers

NM_018263.6

p.P808delFs

c.2424delG

5 papers

NM_018263.6

p.S825fs

c.2473_2474fs

6 papers

NM_018263.6

p.P824delFs

c.2472delG

1 paper

NM_018263.6

p.L806R

c.2417T>G

1 paper

NM_018263.6

p.C827R

c.2479T>C

1 paper

NM_018263.6

p.N803S

c.2408A>G

6 papers

NM_018263.6

p.Q829*

c.2485C>T

1 paper

NM_018263.6

p.I798V

c.2392A>G