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.V891_P900del0

c.2672_2698del27

Surrounding Variants

1 paper

NM_015338.6

p.V891I

c.2671G>A

1 paper

NM_015338.6

p.V891fs

c.2671_2672fs

1 paper

NM_015338.6

p.S892_W898delFs

c.2674_2692del19

1 paper

NM_015338.6

p.V891_S903delFs

c.2672_2708del37

1 paper

NM_015338.6

p.L890L

c.2670C>T

1 paper

NM_015338.6

p.V891_S895delFs

c.2671_2683del13

1 paper

NM_015338.6

p.L890insFs

c.2669dupT

4 papers

NM_015338.6

p.L890F

c.2668C>T

1 paper

NM_015338.6

p.S892P

c.2674T>C

1 paper

NM_015338.6

p.S892fs

c.2674_2675fs

1 paper

NM_015338.6

p.S892fs

c.2674_2675fs

1 paper

NM_015338.6

p.S892F

c.2675C>T