Varaico: Literature-Extracted Genetic Variants

ASXL1

1,980 papers

RefSeq Summary

This gene is similar to the Drosophila additional sex combs gene, which encodes a chromatin-binding protein required for normal determination of segment identity in the developing embryo. The protein ...

Pfam Domains

HARE-HTHaa 11–83UCSCHB1, ASXL, restriction endonuclease HTH domain

ASXHaa 236–361UCSCAsx homology domain

PHD_3aa 1483–1539UCSCPHD domain of transcriptional enhancer, Asx

Gene Aliases

HGNC Name

ASXL transcriptional regulator 1

HGNC Alias Symbol

KIAA0978

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015338.6

p.S1040fs

c.3118_3119fs

Surrounding Variants

1 paper

NM_015338.6

p.S1040_T1056insFs

c.3119_3167dup49

1 paper

NM_015338.6

p.S1040delFs

c.3119delC

10 papers

NM_015338.6

p.Q1039*

c.3115C>T

1 paper

NM_015338.6

p.A1041T

c.3121G>A

1 paper

NM_015338.6

p.A1041P

c.3121G>C

1 paper

NM_015338.6

p.A1041fs

c.3121_3122fs

1 paper

NM_015338.6

p.Q1039_S1040delFs

c.3115_3119del5

1 paper

NM_015338.6

p.P1042T

c.3124C>A

1 paper

NM_015338.6

p.P1042S

c.3124C>T

10 papers

NM_015338.6

p.W1037*

c.3111G>A

1 paper

NM_015338.6

p.W1037C

c.3111G>C

1 paper

NM_015338.6

p.W1037C

c.3111G>T