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.C98Y

c.293G>A

Surrounding Variants

1 paper

NM_003031.4

p.F96L

c.288C>G

1 paper

NM_003031.4

p.F96L

c.288C>A

1 paper

NM_003031.4

p.F96L

c.286T>C

2 papers

NM_003031.4

p.A91del1

c.271_272delAGC

2 papers

NM_003031.4

p.E113fs

c.337_338fs

1 paper

NM_003031.4

p.E113delFs

c.337_338delTC

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.C75S

c.224G>C

1 paper

NM_003031.4

p.C75S

c.223T>A

1 paper

NM_003031.4

p.C72S

c.215G>C

1 paper

NM_003031.4

p.C72Y

c.215G>A