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.G1156*

c.3466G>T

Surrounding Variants

1 paper

NM_015338.6

p.G1156_G1164del9

c.3466_3491del27

1 paper

NM_015338.6

p.K1157E

c.3469A>G

1 paper

NM_015338.6

p.K1157*

c.3469A>T

1 paper

NM_015338.6

p.L1155F

c.3463C>T

1 paper

NM_015338.6

p.G1154D

c.3461G>A

1 paper

NM_015338.6

p.G1154S

c.3460G>A

3 papers

NM_015338.6

p.G1154R

c.3460G>C

6 papers

NM_015338.6

p.G1154_L1155ins5

c.3460_3464ins15

1 paper

NM_015338.6

p.G1154_L1155ins7

c.3460_3464ins21

3 papers

NM_015338.6

p.H1153R

c.3458A>G

1 paper

NM_015338.6

p.S1159R

c.3475A>C

1 paper

NM_015338.6

p.L1152*

c.3455T>A