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.S917S

c.2751G>A

Surrounding Variants

1 paper

NM_018263.6

p.S917_S918ins2

c.2751_2752ins6

2 papers

NM_018263.6

p.S918fs

c.2752_2753fs

1 paper

NM_018263.6

p.P916S

c.2746C>T

1 paper

NM_018263.6

p.S918_L920Fs

c.2752_2758delinsGTTTTCCCCAGCTGGGAFs

1 paper

NM_018263.6

p.P915S

c.2743C>T

1 paper

NM_018263.6

p.A923S

c.2767G>T

1 paper

NM_018263.6

p.G912V

c.2735G>T

1 paper

NM_018263.6

p.A911T

c.2731G>A

1 paper

NM_018263.6

p.P910S

c.2728C>T

1 paper

NM_018263.6

p.A909T

c.2725G>A

1 paper

NM_018263.6

p.T908A

c.2722A>G

1 paper

NM_018263.6

p.A906G

c.2717C>G