Varaico: Literature-Extracted Genetic Variants

SAP30

19 papers

RefSeq Summary

Histone acetylation plays a key role in the regulation of eukaryotic gene expression. Histone acetylation and deacetylation are catalyzed by multisubunit complexes. The protein encoded by this gene is...

Pfam Domains

zf-SAP30aa 63–133UCSCSAP30 zinc-finger

SAP30_Sin3_bdgaa 153–205UCSCSin3 binding region of histone deacetylase complex subunit SAP30

Gene Aliases

HGNC Name

Sin3A associated protein 30

HGNC Previous Name

sin3A-associated protein, 30kDa

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003864.4

p.K214N

c.642G>C

Surrounding Variants

1 paper

NM_003864.4

p.K214N

c.642G>T

1 paper

NM_003864.4

p.K214M

c.641A>T

1 paper

NM_003864.4

p.*221Q

c.661T>C

1 paper

NM_003864.4

p.E180_I181Splc

c.541-1G>C

2 papers

NM_003864.4

p.H164R

c.491A>G

1 paper

NM_003864.4

p.E147_V148Splc

c.442-2A>G

1 paper

NM_003864.4

p.Q141*

c.421C>T

1 paper

NM_003864.4

p.L69R

c.206T>G

1 paper

NM_003864.4

p.G64R

c.190G>A

1 paper

NM_003864.4

p.G64R

c.190G>C

1 paper

NM_003864.4

p.A59G

c.176C>G

1 paper

NM_003864.4

p.A53T

c.157G>A