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

1 paper

NM_003031.4

p.D200G

c.599A>G

Surrounding Variants

1 paper

NM_003031.4

p.H202Y

c.604C>T

1 paper

NM_003031.4

p.Q203E

c.607C>G

1 paper

NM_003031.4

p.I208L

c.622A>C

1 paper

NM_003031.4

p.Q210L

c.629A>T

1 paper

NM_003031.4

p.L211P

c.632T>C

1 paper

NM_003031.4

p.D177E

c.531C>A

1 paper

NM_003031.4

p.D177A

c.530A>C

3 papers

NM_003031.4

p.D177H

c.529G>C

1 paper

NM_003031.4

p.V176A

c.527T>C

4 papers

NM_003031.4

p.G174R

c.520G>C

1 paper

NM_003031.4

p.L227P

c.680T>C

1 paper

NM_003031.4

p.N171S

c.512A>G