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.N1105Y

c.3313A>T

Surrounding Variants

1 paper

NM_015338.6

p.N1105K

c.3315C>A

1 paper

NM_015338.6

p.T1104S

c.3311C>G

1 paper

NM_015338.6

p.N1105K

c.3315C>G

1 paper

NM_015338.6

p.T1104S

c.3310A>T

1 paper

NM_015338.6

p.P1106R

c.3317C>G

2 papers

NM_015338.6

p.A1103V

c.3308C>T

51 papers

NM_015338.6

p.E1102D

c.3306G>C

57 papers

NM_015338.6

p.E1102D

c.3306G>T

1 paper

NM_015338.6

p.E1102fs

c.3304_3305fs

1 paper

NM_015338.6

p.V1101V

c.3303G>T

1 paper

NM_015338.6

p.V1101insFs

c.3302dupT

1 paper

NM_015338.6

p.Q1110*

c.3328C>T