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.P1139H

c.3416C>A

Surrounding Variants

1 paper

NM_030632.3

p.P1140delFs

c.3419delC

2 papers

NM_030632.3

p.P1140fs

c.3418_3419fs

2 papers

NM_030632.3

p.N1141_E1143delFs

c.3423_3429del7

2 papers

NM_030632.3

p.N1141fs

c.3421_3422fs

1 paper

NM_030632.3

p.L1133fs

c.3397_3398fs

1 paper

NM_030632.3

p.L1133delFs

c.3397delC

1 paper

NM_030632.3

p.S1146Y

c.3437C>A

1 paper

NM_030632.3

p.P1130R

c.3389C>G

1 paper

NM_030632.3

p.K1151_G1157del7

c.3451_3470del21

2 papers

NM_030632.3

p.R1128fs

c.3382_3383fs

3 papers

NM_030632.3

p.R1128delFs

c.3382delC

1 paper

NM_030632.3

p.E1126K

c.3376G>A