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.E1000K

c.2998G>A

Surrounding Variants

1 paper

NM_030632.3

p.P1002T

c.3004C>A

1 paper

NM_030632.3

p.E998Q

c.2992G>C

2 papers

NM_030632.3

p.E998fs

c.2992_2993fs

1 paper

NM_030632.3

p.E998fs

c.2992_2993fs

4 papers

NM_030632.3

p.P1002delFs

c.3006delT

2 papers

NM_030632.3

p.E998_K999delFs

c.2992_2995del4

1 paper

NM_030632.3

p.P1003L

c.3008C>T

1 paper

NM_030632.3

p.R1004fs

c.3010_3011fs

3 papers

NM_030632.3

p.R1004fs

c.3010_3011fs

1 paper

NM_030632.3

p.S993A

c.2977T>G

4 papers

NM_030632.3

p.P1010delFs

c.3028delC

1 paper

NM_030632.3

p.P1010fs

c.3028_3029fs