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

1–12 of 800 variants

21 papers

NM_030632.3

p.R1036*

c.3106C>T

21 papers

NM_030632.3

p.R1444*

c.4330C>T

16 papers

NM_030632.3

p.R1117*

c.3349C>T

14 papers

NM_030632.3

p.Q1122*

c.3364C>T

13 papers

NM_030632.3

p.Q404*

c.1210C>T

11 papers

NM_030632.3

p.Q633delFs

c.1897_1898delCA

11 papers

NM_030632.3

p.K1013_I1014Splc

c.3039+1G>A

9 papers

NM_030632.3

p.Q466*

c.1396C>T

9 papers

NM_030632.3

p.Q633fs

c.1897_1898fs

8 papers

NM_030632.3

p.N954S

c.2861A>G

8 papers

NM_030632.3

p.R1060insFs

c.3178dupC

8 papers

NM_030632.3

p.L1407delFs

c.4219_4220delCT