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.R1148C

c.3442C>T

Surrounding Variants

8 papers

NM_015338.6

p.R1148H

c.3443G>A

1 paper

NM_015338.6

p.R1148L

c.3443G>T

1 paper

NM_015338.6

p.L1147P

c.3440T>C

1 paper

NM_015338.6

p.L1147L

c.3439C>T

4 papers

NM_015338.6

p.S1146*

c.3437C>A

1 paper

NM_015338.6

p.S1146L

c.3437C>T

1 paper

NM_015338.6

p.G1150R

c.3448G>A

1 paper

NM_015338.6

p.G1150R

c.3448G>C

1 paper

NM_015338.6

p.G1150fs

c.3448_3449fs

2 papers

NM_015338.6

p.G1150*

c.3448G>T

1 paper

NM_015338.6

p.G1145G

c.3435C>T

1 paper

NM_015338.6

p.G1150E

c.3449G>A