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

2 papers

NM_015338.6

p.C1240R

c.3718T>C

Surrounding Variants

1 paper

NM_015338.6

p.C1240F

c.3719G>T

1 paper

NM_015338.6

p.C1240*

c.3720T>A

3 papers

NM_015338.6

p.E1241K

c.3721G>A

1 paper

NM_015338.6

p.E1241*

c.3721G>T

1 paper

NM_015338.6

p.E1241_V1246delFs

c.3722_3738del17

1 paper

NM_015338.6

p.D1242_Q1243del2

c.3724_3728del6

1 paper

NM_015338.6

p.F1238insFs

c.3713_3714insA

1 paper

NM_015338.6

p.D1242N

c.3724G>A

1 paper

NM_015338.6

p.F1238fs

c.3712_3713fs

1 paper

NM_015338.6

p.F1238_S1253delFs

c.3712_3757del46

2 papers

NM_015338.6

p.S1237F

c.3710C>T

1 paper

NM_015338.6

p.Q1243E

c.3727C>G