Varaico: Literature-Extracted Genetic Variants

SIAH1

81 papers

RefSeq Summary

This gene encodes a protein that is a member of the seven in absentia homolog (SIAH) family. The protein is an E3 ligase and is involved in ubiquitination and proteasome-mediated degradation of specif...

Pfam Domains

Sina_RINGaa 41–75UCSCE3 ubiquitin-protein ligase sina/sinah, RING finger

Sina_ZnFaa 89–165UCSCSina, zinc finger

Sina_TRAFaa 182–278UCSCSina, TRAF-like domain

Gene Aliases

HGNC Name

siah E3 ubiquitin protein ligase 1

HGNC Alias Symbol

hSIAH1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 80 variants

5 papers

NM_003031.4

p.T168A

c.502A>G

4 papers

NM_003031.4

p.C41G

c.121T>G

4 papers

NM_003031.4

p.C44S

c.130T>A

4 papers

NM_003031.4

p.C44S

c.131G>C

4 papers

NM_003031.4

p.C128F

c.383G>T

4 papers

NM_003031.4

p.G174R

c.520G>C

3 papers

NM_003031.4

p.A6fs

c.16_17fs

3 papers

NM_003031.4

p.T7fs

c.19_20fs

3 papers

NM_003031.4

p.A24fs

c.70_71fs

3 papers

NM_003031.4

p.A30P

c.88G>C

3 papers

NM_003031.4

p.L35*

c.104T>A

3 papers

NM_003031.4

p.P50L

c.149C>T