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.T1751M

c.5252C>T

Surrounding Variants

2 papers

NM_030632.3

p.T1751A

c.5251A>G

1 paper

NM_030632.3

p.P1748S

c.5242C>T

1 paper

NM_030632.3

p.Q1755*

c.5263C>T

3 papers

NM_030632.3

p.E1761fs

c.5281_5282fs

1 paper

NM_030632.3

p.R1739H

c.5216G>A

2 papers

NM_030632.3

p.Q1766R

c.5297A>G

1 paper

NM_030632.3

p.P1767S

c.5299C>T

1 paper

NM_030632.3

p.S1735T

c.5204G>C

1 paper

NM_030632.3

p.G1734delFs

c.5202delG

1 paper

NM_030632.3

p.D1725N

c.5173G>A

1 paper

NM_030632.3

p.L1780M

c.5338T>A

1 paper

NM_030632.3

p.P1781T

c.5341C>A