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

7 papers

NM_015338.6

p.S1166R

c.3498C>A

Surrounding Variants

8 papers

NM_015338.6

p.S1166R

c.3498C>G

1 paper

NM_015338.6

p.P1167delFs

c.3501delC

1 paper

NM_015338.6

p.S1166fs

c.3496_3497fs

7 papers

NM_015338.6

p.S1166R

c.3496A>C

1 paper

NM_015338.6

p.P1167L

c.3500C>T

1 paper

NM_015338.6

p.S1165R

c.3495C>A

1 paper

NM_015338.6

p.S1165R

c.3495C>G

2 papers

NM_015338.6

p.S1168fs

c.3502_3503fs

1 paper

NM_015338.6

p.S1168R

c.3502A>C

1 paper

NM_015338.6

p.S1168C

c.3502A>T

1 paper

NM_015338.6

p.S1165R

c.3493A>C

1 paper

NM_015338.6

p.S1168T

c.3503G>C