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.L1170fs

c.3508_3509fs

Surrounding Variants

1 paper

NM_015338.6

p.L1170delFs

c.3509_3510delTA

3 papers

NM_015338.6

p.L1170*

c.3509T>A

1 paper

NM_015338.6

p.L1170S

c.3509T>C

3 papers

NM_015338.6

p.L1170*

c.3509T>G

1 paper

NM_015338.6

p.L1170F

c.3510A>C

1 paper

NM_015338.6

p.L1170F

c.3510A>T

1 paper

NM_015338.6

p.S1169Y

c.3506C>A

1 paper

NM_015338.6

p.R1171fs

c.3511_3512fs

4 papers

NM_015338.6

p.A1172delFs

c.3514delG

1 paper

NM_015338.6

p.S1169fs

c.3505_3506fs

1 paper

NM_015338.6

p.S1168R

c.3504T>A

1 paper

NM_015338.6

p.S1168R

c.3504T>G