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

26 papers

NM_015338.6

p.W583*

c.1749G>A

Surrounding Variants

1 paper

NM_015338.6

p.W583C

c.1749G>C

1 paper

NM_015338.6

p.W583C

c.1749G>T

26 papers

NM_015338.6

p.W583*

c.1748G>A

3 papers

NM_015338.6

p.W583R

c.1747T>A

3 papers

NM_015338.6

p.W583R

c.1747T>C

1 paper

NM_015338.6

p.V584Fs

c.1751delinsTGFs

1 paper

NM_015338.6

p.V585delFs

c.1753delG

1 paper

NM_015338.6

p.W583fs

c.1747_1748fs

1 paper

NM_015338.6

p.W583_V585delFs

c.1749_1753del5

1 paper

NM_015338.6

p.P582_W583Fs

c.1746_1747delinsCFs

1 paper

NM_015338.6

p.W583_K586delFs

c.1747_1757del11

1 paper

NM_015338.6

p.P582_I598ins5

c.1746_1793dup48