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

8 papers

NM_015338.6

p.G649*

c.1945G>T

Surrounding Variants

1 paper

NM_015338.6

p.G649insFs

c.1946_1947ins4

1 paper

NM_015338.6

p.G649fs

c.1945_1946fs

3 papers

NM_015338.6

p.G649fs

c.1945_1946fs

1 paper

NM_015338.6

p.G648G

c.1944T>G

1 paper

NM_015338.6

p.G648D

c.1943G>A

1 paper

NM_015338.6

p.G650fs

c.1948_1949fs

1 paper

NM_015338.6

p.P647insFs

c.1941dupG

1 paper

NM_015338.6

p.G648_G649insFs

c.1943_1946dup4

2 papers

NM_015338.6

p.P647fs

c.1939_1940fs

2 papers

NM_015338.6

p.P647fs

c.1939_1940fs

1 paper

NM_015338.6

p.P647_G650delFs

c.1940_1950del11

1 paper

NM_015338.6

p.G651S

c.1951G>A