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.S1159R

c.3475A>C

Surrounding Variants

1 paper

NM_015338.6

p.S1159R

c.3477T>A

1 paper

NM_015338.6

p.S1159R

c.3477T>G

1 paper

NM_015338.6

p.G1160_M1161insFs

c.3480_3481ins7

1 paper

NM_015338.6

p.K1157E

c.3469A>G

1 paper

NM_015338.6

p.M1161V

c.3481A>G

1 paper

NM_015338.6

p.K1157*

c.3469A>T

2 papers

NM_015338.6

p.G1156*

c.3466G>T

1 paper

NM_015338.6

p.G1156_G1164del9

c.3466_3491del27

1 paper

NM_015338.6

p.L1155F

c.3463C>T

3 papers

NM_015338.6

p.D1163N

c.3487G>A

1 paper

NM_015338.6

p.G1154D

c.3461G>A

1 paper

NM_015338.6

p.G1154S

c.3460G>A