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.A2120V

c.6359C>T

Surrounding Variants

1 paper

NM_030632.3

p.A2116V

c.6347C>T

4 papers

NM_030632.3

p.A2116T

c.6346G>A

1 paper

NM_030632.3

p.K2113Q

c.6337A>C

1 paper

NM_030632.3

p.K2132T

c.6395A>C

1 paper

NM_030632.3

p.F2134C

c.6401T>G

1 paper

NM_030632.3

p.E2095E

c.6285A>G

1 paper

NM_030632.3

p.Q2145*

c.6433C>T

1 paper

NM_030632.3

p.S2091N

c.6272G>A

1 paper

NM_030632.3

p.E2088Q

c.6262G>C

1 paper

NM_030632.3

p.S2081T

c.6241T>A

1 paper

NM_030632.3

p.F2159F

c.6477T>C

1 paper

NM_030632.3

p.K2080I

c.6239A>T