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.E1175K

c.3523G>A

Surrounding Variants

1 paper

NM_015338.6

p.E1175*

c.3523G>T

1 paper

NM_015338.6

p.K1174N

c.3522G>C

1 paper

NM_015338.6

p.K1174N

c.3522G>T

1 paper

NM_015338.6

p.P1176_L1188del13

c.3526_3563del39

1 paper

NM_015338.6

p.K1174*

c.3520A>T

1 paper

NM_015338.6

p.L1178_L1188del11

c.3532_3563del33

2 papers

NM_015338.6

p.L1173L

c.3519G>A

1 paper

NM_015338.6

p.L1173*

c.3518T>A

1 paper

NM_015338.6

p.L1173S

c.3518T>C

1 paper

NM_015338.6

p.A1172fs

c.3514_3515fs

4 papers

NM_015338.6

p.A1172fs

c.3514_3515fs

1 paper

NM_015338.6

p.R1171R

c.3513G>A