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.N1218_P1219insG

c.3652_3656ins3

Surrounding Variants

1 paper

NM_015338.6

p.N1218fs

c.3652_3653fs

3 papers

NM_015338.6

p.I1220F

c.3658A>T

3 papers

NM_015338.6

p.V1216L

c.3646G>C

3 papers

NM_015338.6

p.V1216L

c.3646G>T

1 paper

NM_015338.6

p.I1220insFs

c.3659_3660ins4

1 paper

NM_015338.6

p.P1215S

c.3643C>T

1 paper

NM_015338.6

p.T1221K

c.3662C>A

3 papers

NM_015338.6

p.L1213fs

c.3637_3638fs

2 papers

NM_015338.6

p.L1213fs

c.3637_3638fs

1 paper

NM_015338.6

p.S1223F

c.3668C>T

1 paper

NM_015338.6

p.S1212C

c.3635C>G

5 papers

NM_015338.6

p.S1212F

c.3635C>T