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.D1252_K1261delFs

c.3755_3783del29

Surrounding Variants

1 paper

NM_015338.6

p.D1252_P1263delFs

c.3754_3787del34

1 paper

NM_015338.6

p.D1252_P1263delFs

c.3754_3788del35

1 paper

NM_015338.6

p.D1252insFs

c.3754dupG

1 paper

NM_015338.6

p.Q1251_G1260del0

c.3753_3779del27

1 paper

NM_015338.6

p.D1252N

c.3754G>A

1 paper

NM_015338.6

p.D1252_G1260delFs

c.3755_3780del26

1 paper

NM_015338.6

p.D1252_K1261del0

c.3755_3781del27

1 paper

NM_015338.6

p.D1252_P1263delFs

c.3755_3789del35

3 papers

NM_015338.6

p.D1252G

c.3755A>G

1 paper

NM_015338.6

p.D1252_G1260del0

c.3756_3779del24

1 paper

NM_015338.6

p.S1253_S1262del0

c.3757_3786del30

1 paper

NM_015338.6

p.S1253_P1263delFs

c.3757_3787del31