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.E1034delFs

c.3101_3102delAG

Surrounding Variants

1 paper

NM_030632.3

p.P1033fs

c.3097_3098fs

1 paper

NM_030632.3

p.K1032N

c.3096A>C

1 paper

NM_030632.3

p.K1032N

c.3096A>T

1 paper

NM_030632.3

p.K1032insFs

c.3096dupA

21 papers

NM_030632.3

p.R1036*

c.3106C>T

1 paper

NM_030632.3

p.V1030A

c.3089T>C

5 papers

NM_030632.3

p.K1026N

c.3078G>C

4 papers

NM_030632.3

p.K1026N

c.3078G>T

1 paper

NM_030632.3

p.S1042P

c.3124T>C

5 papers

NM_030632.3

p.V1043insFs

c.3127_3128dupGT

1 paper

NM_030632.3

p.S1044_G1045insFs

c.3132_3133ins4

4 papers

NM_030632.3

p.G1045fs

c.3133_3134fs