Varaico: Literature-Extracted Genetic Variants

SIN3A

240 papers

RefSeq Summary

The protein encoded by this gene is a transcriptional regulatory protein. It contains paired amphipathic helix (PAH) domains, which are important for protein-protein interactions and may mediate repre...

Pfam Domains

PAHaa 142–186UCSCPaired amphipathic helix repeat

PAHaa 323–380UCSCPaired amphipathic helix repeat

PAHaa 478–522UCSCPaired amphipathic helix repeat

Sin3_corepressaa 552–647UCSCSin3 family co-repressor

Sin3a_Caa 886–1186UCSCC-terminal domain of Sin3a protein

Gene Aliases

HGNC Name

SIN3 transcription regulator family member A

HGNC Alias Symbols

KIAA0700; DKFZP434K2235

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001145358.2

p.H818R

c.2453A>G

Surrounding Variants

1 paper

NM_001145358.2

p.M816T

c.2447T>C

1 paper

NM_001145358.2

p.Q827fs

c.2479_2480fs

1 paper

NM_001145358.2

p.S832*

c.2495C>G

1 paper

NM_001145358.2

p.S832*

c.2495C>A

1 paper

NM_001145358.2

p.Q785fs

c.2353_2354fs

3 papers

NM_001145358.2

p.A780delFs

c.2339delG

1 paper

NM_001145358.2

p.A780fs

c.2338_2339fs

3 papers

NM_001145358.2

p.P862L

c.2585C>T

1 paper

NM_001145358.2

p.T765A

c.2293A>G

1 paper

NM_001145358.2

p.Q874*

c.2620C>T

1 paper

NM_001145358.2

p.E881K

c.2641G>A

1 paper

NM_001145358.2

p.L885I

c.2653C>A