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.S1095P

c.3283T>C

Surrounding Variants

1 paper

NM_015338.6

p.C1093*

c.3279C>A

3 papers

NM_015338.6

p.V1092M

c.3274G>A

1 paper

NM_015338.6

p.R1090T

c.3269G>C

1 paper

NM_015338.6

p.R1090*

c.3268A>T

1 paper

NM_015338.6

p.P1089A

c.3265C>G

2 papers

NM_015338.6

p.P1089S

c.3265C>T

1 paper

NM_015338.6

p.V1101insFs

c.3302dupT

1 paper

NM_015338.6

p.V1101V

c.3303G>T

2 papers

NM_015338.6

p.Q1088*

c.3262C>T

1 paper

NM_015338.6

p.E1102fs

c.3304_3305fs

3 papers

NM_015338.6

p.Y1087*

c.3261C>A

3 papers

NM_015338.6

p.Y1087*

c.3261C>G