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.L2067fs

c.6199_6200fs

Surrounding Variants

1 paper

NM_030632.3

p.L2067delFs

c.6200_6201delTT

2 papers

NM_030632.3

p.L2067R

c.6200T>G

1 paper

NM_030632.3

p.L2067_S2068delFs

c.6199_6202del4

1 paper

NM_030632.3

p.K2055fs

c.6163_6164fs

1 paper

NM_030632.3

p.I2079T

c.6236T>C

1 paper

NM_030632.3

p.K2055delFs

c.6165delA

1 paper

NM_030632.3

p.K2080I

c.6239A>T

1 paper

NM_030632.3

p.S2081T

c.6241T>A

1 paper

NM_030632.3

p.E2049V

c.6146A>T

1 paper

NM_030632.3

p.E2088Q

c.6262G>C

1 paper

NM_030632.3

p.S2091N

c.6272G>A

1 paper

NM_030632.3

p.L2041_P2042insA

c.6121_6125ins3