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.E368D

c.1104A>T

Surrounding Variants

1 paper

NM_015338.6

p.E368D

c.1104A>C

1 paper

NM_015338.6

p.E369fs

c.1105_1106fs

2 papers

NM_015338.6

p.E369*

c.1105G>T

1 paper

NM_015338.6

p.E368Q

c.1102G>C

1 paper

NM_015338.6

p.E368*

c.1102G>T

2 papers

NM_015338.6

p.S370T

c.1108T>A

1 paper

NM_015338.6

p.K367*

c.1099A>T

1 paper

NM_015338.6

p.K367_I382delFs

c.1100_1145del46

1 paper

NM_015338.6

p.S370*

c.1109C>A

1 paper

NM_015338.6

p.L371_I382del0

c.1111_1146del36

1 paper

NM_015338.6

p.T366S

c.1097C>G

2 papers

NM_015338.6

p.T366A

c.1096A>G