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

3 papers

NM_015338.6

p.Q1135*

c.3403C>T

Surrounding Variants

1 paper

NM_015338.6

p.P1134_Q1135insFs

c.3402_3403insGG

1 paper

NM_015338.6

p.P1134_K1140del7

c.3400_3419del21

1 paper

NM_015338.6

p.V1136G

c.3407T>G

2 papers

NM_015338.6

p.E1132K

c.3394G>A

1 paper

NM_015338.6

p.E1132*

c.3394G>T

8 papers

NM_015338.6

p.T1139K

c.3416C>A

2 papers

NM_015338.6

p.T1139R

c.3416C>G

1 paper

NM_015338.6

p.M1130I

c.3390G>A

1 paper

NM_015338.6

p.M1130I

c.3390G>C

1 paper

NM_015338.6

p.M1130I

c.3390G>T

1 paper

NM_015338.6

p.M1130L

c.3388A>C

1 paper

NM_015338.6

p.K1140E

c.3418A>G