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.K68T

c.203A>C

Surrounding Variants

1 paper

NM_003031.4

p.R66L

c.197G>T

1 paper

NM_003031.4

p.C72S

c.214T>A

1 paper

NM_003031.4

p.C72S

c.215G>C

1 paper

NM_003031.4

p.C72Y

c.215G>A

1 paper

NM_003031.4

p.C75S

c.223T>A

1 paper

NM_003031.4

p.C75S

c.224G>C

1 paper

NM_001006610.2

p.L91del1

c.271_272delAAG

1 paper

NM_003031.4

p.R76W

c.226C>T

2 papers

NM_003031.4

p.C71_C75del5

c.211_224del15

1 paper

NM_003031.4

p.H59Y

c.175C>T

2 papers

NM_003031.4

p.C55*

c.165T>A

1 paper

NM_003031.4

p.I52I

c.156T>A