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.S1370N

c.4109G>A

Surrounding Variants

4 papers

NM_018263.6

p.Q1371K

c.4111C>A

1 paper

NM_018263.6

p.I1367_P1368insA

c.4099_4103ins3

1 paper

NM_018263.6

p.M1358_S1359del2

c.4072_4076del6

1 paper

NM_018263.6

p.S1359*

c.4076C>G

1 paper

NM_018263.6

p.S1359*

c.4076C>A

1 paper

NM_018263.6

p.A1386T

c.4156G>A

1 paper

NM_018263.6

p.F1387_S1388ins4

c.4159_4163ins12

1 paper

NM_018263.6

p.E1389K

c.4165G>A

1 paper

NM_018263.6

p.E1389D

c.4167A>T

1 paper

NM_018263.6

p.E1389D

c.4167A>C

1 paper

NM_018263.6

p.E1390D

c.4170G>T

1 paper

NM_018263.6

p.E1390D

c.4170G>C