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

4 papers

NM_018263.6

p.C1410G

c.4228T>G

Surrounding Variants

2 papers

NM_018263.6

p.K1411R

c.4232A>G

1 paper

NM_018263.6

p.K1405T

c.4214A>C

1 paper

NM_018263.6

p.A1415V

c.4244C>T

1 paper

NM_018263.6

p.R1403C

c.4207C>T

1 paper

NM_018263.6

p.H1418_D1419delFs

c.4254_4257del4

2 papers

NM_018263.6

p.S1398L

c.4193C>T

1 paper

NM_018263.6

p.S1398W

c.4193C>G

1 paper

NM_018263.6

p.S1398*

c.4193C>A

1 paper

NM_018263.6

p.I1422I

c.4266C>T

1 paper

NM_018263.6

p.G1423S

c.4267G>A

1 paper

NM_018263.6

p.T1396R

c.4187C>G

1 paper

NM_018263.6

p.T1396S

c.4186A>T