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.L1655R

c.4964T>G

Surrounding Variants

1 paper

NM_030632.3

p.P1657S

c.4969C>T

1 paper

NM_030632.3

p.P1667_V1668del2

c.4999_5003del6

1 paper

NM_030632.3

p.V1668M

c.5002G>A

1 paper

NM_030632.3

p.K1640K

c.4920G>A

4 papers

NM_030632.3

p.Q1636*

c.4906C>T

1 paper

NM_030632.3

p.A1675G

c.5024C>G

2 papers

NM_030632.3

p.Y1633*

c.4899T>A

2 papers

NM_030632.3

p.Y1633*

c.4899T>G

1 paper

NM_030632.3

p.Y1633insFs

c.4897dupT

2 papers

NM_030632.3

p.E1632fs

c.4894_4895fs

1 paper

NM_030632.3

p.E1632delFs

c.4894_4895delGA

1 paper

NM_030632.3

p.K1631E

c.4891A>G