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.S2174S

c.6522C>T

Surrounding Variants

1 paper

NM_030632.3

p.P2184S

c.6550C>T

1 paper

NM_030632.3

p.K2165Q

c.6493A>C

1 paper

NM_030632.3

p.L2188F

c.6564G>C

2 papers

NM_030632.3

p.L2188F

c.6564G>T

1 paper

NM_030632.3

p.G2160D

c.6479G>A

1 paper

NM_030632.3

p.F2159F

c.6477T>C

1 paper

NM_030632.3

p.P2196A

c.6586C>G

1 paper

NM_030632.3

p.Q2145*

c.6433C>T

1 paper

NM_030632.3

p.S2214P

c.6640T>C

1 paper

NM_030632.3

p.F2134C

c.6401T>G

1 paper

NM_030632.3

p.K2132T

c.6395A>C

1 paper

NM_030632.3

p.A2120V

c.6359C>T