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.G680fs

c.2038_2039fs

Surrounding Variants

1 paper

NM_015338.6

p.G680S

c.2038G>A

1 paper

NM_015338.6

p.G680C

c.2038G>T

7 papers

NM_015338.6

p.G680fs

c.2038_2039fs

1 paper

NM_015338.6

p.G680D

c.2039G>A

1 paper

NM_015338.6

p.G680A

c.2039G>C

1 paper

NM_015338.6

p.P681insFs

c.2042dupC

2 papers

NM_015338.6

p.G679A

c.2036G>C

4 papers

NM_015338.6

p.G679*

c.2035G>T

1 paper

NM_015338.6

p.G679fs

c.2035_2036fs

1 paper

NM_015338.6

p.R678S

c.2034G>C

1 paper

NM_015338.6

p.P681P

c.2043G>A

1 paper

NM_015338.6

p.R678M

c.2033G>T