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.K1373fs

c.4117_4118fs

Surrounding Variants

3 papers

NM_030632.3

p.I1374_A1375insFs

c.4120_4123dup4

1 paper

NM_030632.3

p.K1373E

c.4117A>G

2 papers

NM_030632.3

p.A1375fs

c.4123_4124fs

2 papers

NM_030632.3

p.P1370S

c.4108C>T

2 papers

NM_030632.3

p.P1377_G1378del2

c.4129_4133del6

1 paper

NM_030632.3

p.R1368S

c.4104A>C

6 papers

NM_030632.3

p.Q1382*

c.4144C>T

3 papers

NM_030632.3

p.G1364*

c.4090G>T

3 papers

NM_030632.3

p.T1384_V1385delFs

c.4152_4153delTG

1 paper

NM_030632.3

p.V1385fs

c.4153_4154fs

1 paper

NM_030632.3

p.S1386delFs

c.4156delT

1 paper

NM_030632.3

p.S1386fs

c.4156_4157fs