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.M1415R

c.4244T>G

Surrounding Variants

2 papers

NM_030632.3

p.M1415V

c.4243A>G

2 papers

NM_030632.3

p.A1414T

c.4240G>A

1 paper

NM_030632.3

p.V1413_T1417del5

c.4237_4250del15

1 paper

NM_030632.3

p.V1413_S1425del13

c.4237_4274del39

1 paper

NM_030632.3

p.V1408A

c.4223T>C

3 papers

NM_030632.3

p.L1407fs

c.4219_4220fs

2 papers

NM_030632.3

p.L1407fs

c.4219_4220fs

8 papers

NM_030632.3

p.L1407delFs

c.4219_4220delCT

2 papers

NM_030632.3

p.D1405fs

c.4213_4214fs

1 paper

NM_030632.3

p.D1405_S1406del1

c.4214_4216delACT

1 paper

NM_030632.3

p.D1427N

c.4279G>A

1 paper

NM_030632.3

p.L1395fs

c.4183_4184fs