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.S95*

c.284C>A

Surrounding Variants

1 paper

NM_018263.6

p.S95*

c.284C>G

1 paper

NM_018263.6

p.V91delFs

c.272_273delCA

1 paper

NM_018263.6

p.V91insFs

c.271dupG

1 paper

NM_018263.6

p.V91fs

c.271_272fs

3 papers

NM_018263.6

p.D86E

c.258T>G

3 papers

NM_018263.6

p.D86E

c.258T>A

1 paper

NM_018263.6

p.Q105_S106ins4

c.313_317ins12

1 paper

NM_018263.6

p.K84_K85Splc

c.253-1G>A

1 paper

NM_018263.6

p.S106*

c.317C>G

1 paper

NM_018263.6

p.S106*

c.317C>A

1 paper

NM_018263.6

p.S108F

c.323C>T

1 paper

NM_018263.6

p.S110C

c.328A>T