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.T1096T

c.3288G>A

Surrounding Variants

1 paper

NM_030632.3

p.T1096fs

c.3286_3287fs

1 paper

NM_030632.3

p.T1096fs

c.3286_3287fs

4 papers

NM_030632.3

p.K1095_T1096delFs

c.3284_3288del5

2 papers

NM_030632.3

p.K1095_T1096del2

c.3283_3287del6

1 paper

NM_030632.3

p.K1103*

c.3307A>T

1 paper

NM_030632.3

p.P1090A

c.3268C>G

1 paper

NM_030632.3

p.E1104*

c.3310G>T

2 papers

NM_030632.3

p.Q1105_T1106delFs

c.3313_3316del4

1 paper

NM_030632.3

p.T1106fs

c.3316_3317fs

1 paper

NM_030632.3

p.A1108delFs

c.3324delT

1 paper

NM_030632.3

p.G1085*

c.3253G>T

1 paper

NM_030632.3

p.K1109delFs

c.3325_3326delAA