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

10 papers

NM_015338.6

p.R1224T

c.3671G>C

Surrounding Variants

1 paper

NM_015338.6

p.R1224W

c.3670A>T

1 paper

NM_015338.6

p.K1225*

c.3673A>T

1 paper

NM_015338.6

p.S1223F

c.3668C>T

1 paper

NM_015338.6

p.E1227*

c.3679G>T

1 paper

NM_015338.6

p.T1221K

c.3662C>A

1 paper

NM_015338.6

p.E1228K

c.3682G>A

1 paper

NM_015338.6

p.E1228Q

c.3682G>C

3 papers

NM_015338.6

p.E1228*

c.3682G>T

1 paper

NM_015338.6

p.I1220insFs

c.3659_3660ins4

3 papers

NM_015338.6

p.I1220F

c.3658A>T

1 paper

NM_015338.6

p.M1229_F1235del7

c.3685_3704del21

2 papers

NM_015338.6

p.D1230H

c.3688G>C