Varaico: Literature-Extracted Genetic Variants

ASXL2

363 papers

RefSeq Summary

This gene encodes a member of a family of epigenetic regulators that bind various histone-modifying enzymes and are involved in the assembly of transcription factors at specific genomic loci. Naturall...

Pfam Domains

HARE-HTHaa 11–83UCSCHB1, ASXL, restriction endonuclease HTH domain

ASXHaa 255–380UCSCAsx homology domain

PHD_3aa 1373–1433UCSCPHD domain of transcriptional enhancer, Asx

Gene Aliases

HGNC Name

ASXL transcriptional regulator 2

HGNC Alias Symbols

ASXH2; FLJ10898; KIAA1685

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018263.6

p.S1290N

c.3869G>A

Surrounding Variants

1 paper

NM_018263.6

p.V1293_L1294ins4

c.3877_3881ins12

1 paper

NM_018263.6

p.V1293A

c.3878T>C

3 papers

NM_018263.6

p.E1287*

c.3859G>T

1 paper

NM_018263.6

p.E1287fs

c.3859_3860fs

1 paper

NM_018263.6

p.P1286_E1287insFs

c.3858_3859insT

1 paper

NM_018263.6

p.P1286insFs

c.3857_3858insT

1 paper

NM_018263.6

p.P1295S

c.3883C>T

1 paper

NM_018263.6

p.R1283C

c.3847C>T

1 paper

NM_018263.6

p.R1283_S1284insT

c.3847_3851ins3

1 paper

NM_018263.6

p.I1282_R1283delins

c.3846_3847delinsGT

1 paper

NM_018263.6

p.I1282M

c.3846C>G

1 paper

NM_018263.6

p.I1282V

c.3844A>G