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

Selected Variant

4 papers

NM_003031.4

p.C44S

c.130T>A

Surrounding Variants

4 papers

NM_003031.4

p.C44S

c.131G>C

1 paper

NM_001006610.2

p.E71_C75del5

c.211_224del15

2 papers

NM_003031.4

p.C41S

c.122G>C

4 papers

NM_003031.4

p.C41G

c.121T>G

2 papers

NM_003031.4

p.C41S

c.121T>A

1 paper

NM_003031.4

p.F39insFs

c.116dupT

3 papers

NM_003031.4

p.P50L

c.149C>T

1 paper

NM_003031.4

p.S37C

c.109A>T

3 papers

NM_003031.4

p.L35*

c.104T>A

1 paper

NM_003031.4

p.I52I

c.156T>A

2 papers

NM_003031.4

p.C55*

c.165T>A

2 papers

NM_003031.4

p.S31F

c.92C>T