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.P1010delFs

c.3028delC

Surrounding Variants

1 paper

NM_030632.3

p.P1010fs

c.3028_3029fs

3 papers

NM_030632.3

p.P1010fs

c.3028_3029fs

1 paper

NM_030632.3

p.P1010L

c.3029C>T

1 paper

NM_030632.3

p.P1010P

c.3030C>G

1 paper

NM_030632.3

p.P1011fs

c.3031_3032fs

1 paper

NM_030632.3

p.P1011fs

c.3031_3032fs

2 papers

NM_030632.3

p.P1011insFs

c.3033dupT

1 paper

NM_030632.3

p.P1011delFs

c.3033delT

3 papers

NM_030632.3

p.L1012fs

c.3034_3035fs

11 papers

NM_030632.3

p.K1013_I1014Splc

c.3039+1G>A

1 paper

NM_030632.3

p.K1013_I1014Splc

c.3039+1G>T

3 papers

NM_030632.3

p.K1013_I1014Splc

c.3039+2T>C