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.L194F

c.580C>T

Surrounding Variants

1 paper

NM_018263.6

p.L194R

c.581T>G

1 paper

NM_018263.6

p.H193L

c.578A>T

1 paper

NM_018263.6

p.H193P

c.578A>C

1 paper

NM_018263.6

p.H193N

c.577C>A

1 paper

NM_018263.6

p.S195L

c.584C>T

1 paper

NM_018263.6

p.Q192*

c.574C>T

1 paper

NM_018263.6

p.N191N

c.573C>T

1 paper

NM_018263.6

p.S195_T198del4

c.583_593del12

1 paper

NM_018263.6

p.A201P

c.601G>C

6 papers

NM_018263.6

p.S185G

c.553A>G

1 paper

NM_018263.6

p.S205S

c.615T>A

1 paper

NM_018263.6

p.Q181ins11

c.542_543ins33