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

2 papers

NM_030632.3

p.L902*

c.2705T>G

Surrounding Variants

2 papers

NM_030632.3

p.L902*

c.2705T>A

3 papers

NM_030632.3

p.V911M

c.2731G>A

1 paper

NM_030632.3

p.P915S

c.2743C>T

1 paper

NM_030632.3

p.S887fs

c.2659_2660fs

1 paper

NM_030632.3

p.T924delFs

c.2772delA

1 paper

NM_030632.3

p.H925Y

c.2773C>T

1 paper

NM_030632.3

p.K926fs

c.2776_2777fs

1 paper

NM_030632.3

p.P878H

c.2633C>A

4 papers

NM_030632.3

p.Q931delFs

c.2791_2792delCA

1 paper

NM_030632.3

p.T930insFs

c.2789dupC

1 paper

NM_030632.3

p.K874R

c.2621A>G

5 papers

NM_030632.3

p.Q931fs

c.2791_2792fs