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

3 papers

NM_030632.3

p.R1176W

c.3526C>T

Surrounding Variants

1 paper

NM_030632.3

p.S1169R

c.3507C>A

1 paper

NM_030632.3

p.S1169R

c.3507C>G

1 paper

NM_030632.3

p.S1169R

c.3505A>C

5 papers

NM_030632.3

p.C1165*

c.3495T>A

1 paper

NM_030632.3

p.C1165fs

c.3493_3494fs

5 papers

NM_030632.3

p.C1165delFs

c.3494_3495delGT

1 paper

NM_030632.3

p.G1157_V1158insFs

c.3471_3472insA

6 papers

NM_030632.3

p.S1155*

c.3464C>A

1 paper

NM_030632.3

p.L1198ins1

c.3592_3593insGAT

1 paper

NM_030632.3

p.L1198*

c.3593T>A

1 paper

NM_030632.3

p.L1198*

c.3593T>G

1 paper

NM_030632.3

p.S1199_D1204delFs

c.3596_3612del17