Varaico: Literature-Extracted Genetic Variants

ASXL3

394 papers

RefSeq Summary

This gene encodes a protein containing a plant homeodomain (PHD) zinc finger domain that plays a role in the regulation of gene transcription. The encoded protein has been shown to negatively regulate...

Pfam Domains

HARE-HTHaa 10–81UCSCHB1, ASXL, restriction endonuclease HTH domain

ASXHaa 235–360UCSCAsx homology domain

PHD_3aa 2188–2246UCSCPHD domain of transcriptional enhancer, Asx

Gene Aliases

HGNC Name

ASXL transcriptional regulator 3

HGNC Previous Symbol

KIAA1713

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_030632.3

p.L934*

c.2801T>G

Surrounding Variants

1 paper

NM_030632.3

p.L934*

c.2801T>A

1 paper

NM_030632.3

p.R933W

c.2797C>T

5 papers

NM_030632.3

p.Q931fs

c.2791_2792fs

1 paper

NM_030632.3

p.T930insFs

c.2789dupC

4 papers

NM_030632.3

p.Q931delFs

c.2791_2792delCA

1 paper

NM_030632.3

p.T939I

c.2816C>T

1 paper

NM_030632.3

p.S942L

c.2825C>T

1 paper

NM_030632.3

p.K926fs

c.2776_2777fs

1 paper

NM_030632.3

p.H925Y

c.2773C>T

1 paper

NM_030632.3

p.T924delFs

c.2772delA

1 paper

NM_030632.3

p.P945L

c.2834C>T

1 paper

NM_030632.3

p.G951_I952delFs

c.2853_2856del4