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.E1233*

c.3697G>T

Surrounding Variants

1 paper

NM_015338.6

p.E1233K

c.3697G>A

1 paper

NM_015338.6

p.E1233_Q1234insC

c.3697_3701ins3

1 paper

NM_015338.6

p.K1232*

c.3694A>T

1 paper

NM_015338.6

p.Q1234_F1235ins5

c.3700_3704ins15

4 papers

NM_015338.6

p.Q1234*

c.3700C>T

1 paper

NM_015338.6

p.F1235_C1240delFs

c.3705_3718del14

16 papers

NM_015338.6

p.S1231F

c.3692C>T

1 paper

NM_015338.6

p.S1231fs

c.3691_3692fs

1 paper

NM_015338.6

p.F1235fs

c.3703_3704fs

1 paper

NM_015338.6

p.D1230E

c.3690T>A

1 paper

NM_015338.6

p.D1230E

c.3690T>G

1 paper

NM_015338.6

p.S1236_C1240del5

c.3706_3719del15