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.K370R

c.1109A>G

Surrounding Variants

1 paper

NM_018263.6

p.F373L

c.1119C>A

1 paper

NM_018263.6

p.K364delFs

c.1090delT

1 paper

NM_018263.6

p.K365R

c.1094A>G

1 paper

NM_018263.6

p.K364I

c.1091A>T

1 paper

NM_018263.6

p.E363D

c.1089G>C

1 paper

NM_018263.6

p.S381fs

c.1141_1142fs

1 paper

NM_018263.6

p.S381N

c.1142G>A

7 papers

NM_018263.6

p.R357*

c.1069C>T

3 papers

NM_018263.6

p.E351_Q353del3

c.1051_1058del9

1 paper

NM_018263.6

p.Q353*

c.1057C>T

1 paper

NM_018263.6

p.E347_F348del2

c.1039_1043del6

1 paper

NM_018263.6

p.E347K

c.1039G>A