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.A1125T

c.3373G>A

Surrounding Variants

1 paper

NM_015338.6

p.P1124P

c.3372A>G

1 paper

NM_015338.6

p.A1125V

c.3374C>T

1 paper

NM_015338.6

p.P1124_E1132delFs

c.3372_3394del23

1 paper

NM_015338.6

p.H1126R

c.3377A>G

1 paper

NM_015338.6

p.P1123L

c.3368C>T

6 papers

NM_015338.6

p.D1127N

c.3379G>A

1 paper

NM_015338.6

p.D1127E

c.3381T>A

1 paper

NM_015338.6

p.D1127E

c.3381T>G

1 paper

NM_015338.6

p.D1128H

c.3382G>C

1 paper

NM_015338.6

p.L1122_A1125del4

c.3364_3374del12

1 paper

NM_015338.6

p.S1129I

c.3386G>T

1 paper

NM_015338.6

p.K1120M

c.3359A>T