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

2 papers

NM_015338.6

p.L1082del1

c.3244_3245delCTG

Surrounding Variants

1 paper

NM_015338.6

p.L1081P

c.3242T>C

1 paper

NM_015338.6

p.S1079F

c.3236C>T

1 paper

NM_015338.6

p.D1078fs

c.3232_3233fs

1 paper

NM_015338.6

p.D1078Y

c.3232G>T

1 paper

NM_015338.6

p.P1077insFs

c.3230_3231ins4

1 paper

NM_015338.6

p.S1084N

c.3251G>A

1 paper

NM_015338.6

p.T1085I

c.3254C>T

1 paper

NM_015338.6

p.E1086K

c.3256G>A

1 paper

NM_015338.6

p.E1086*

c.3256G>T

1 paper

NM_015338.6

p.K1075Q

c.3223A>C

1 paper

NM_015338.6

p.K1075*

c.3223A>T

1 paper

NM_015338.6

p.Q1074L

c.3221A>T