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

4 papers

NM_030632.3

p.E368*

c.1102G>T

Surrounding Variants

1 paper

NM_030632.3

p.E367A

c.1100A>C

2 papers

NM_030632.3

p.E367fs

c.1099_1100fs

1 paper

NM_030632.3

p.V370delFs

c.1109delT

1 paper

NM_030632.3

p.S365*

c.1094C>A

1 paper

NM_030632.3

p.S365*

c.1094C>G

2 papers

NM_030632.3

p.S365_R366delFs

c.1095_1096delAA

1 paper

NM_030632.3

p.L372L

c.1116C>T

1 paper

NM_030632.3

p.T373I

c.1118C>T

4 papers

NM_030632.3

p.L362fs

c.1084_1085fs

3 papers

NM_030632.3

p.L362fs

c.1084_1085fs

1 paper

NM_030632.3

p.G380E

c.1139G>A

1 paper

NM_030632.3

p.S384_S386delFs

c.1151_1157del7