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

1–12 of 758 variants

8 papers

NM_018263.6

p.R614*

c.1840C>T

7 papers

NM_018263.6

p.R357*

c.1069C>T

6 papers

NM_018263.6

p.S185G

c.553A>G

6 papers

NM_018263.6

p.R591fs

c.1771_1772fs

6 papers

NM_018263.6

p.G694insFs

c.2081dupG

6 papers

NM_018263.6

p.P824delFs

c.2472delG

6 papers

NM_018263.6

p.Q829*

c.2485C>T

5 papers

NM_018263.6

p.S114del1

c.340_341delGCT

5 papers

NM_018263.6

p.E330K

c.988G>A

5 papers

NM_018263.6

p.P424fs

c.1270_1271fs

5 papers

NM_018263.6

p.Q598*

c.1792C>T

5 papers

NM_018263.6

p.T740fs

c.2218_2219fs