Varaico: Literature-Extracted Genetic Variants

SIAH2

55 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 80–114UCSCE3 ubiquitin-protein ligase sina/sinah, RING finger

Sina_ZnFaa 129–205UCSCSina, zinc finger

Sina_TRAFaa 222–318UCSCSina, TRAF-like domain

Gene Aliases

HGNC Name

siah E3 ubiquitin protein ligase 2

HGNC Previous Names

seven in absentia (Drosophila) homolog 2; seven in absentia homolog 2 (Drosophila)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_005067.7

p.C94W

c.282C>G

Surrounding Variants

1 paper

NM_005067.7

p.A96G

c.287C>G

1 paper

NM_005067.7

p.C104Y

c.311G>A

1 paper

NM_005067.7

p.V82L

c.244G>C

1 paper

NM_005067.7

p.C111Y

c.332G>A

1 paper

NM_005067.7

p.H72R

c.215A>G

1 paper

NM_005067.7

p.T119A

c.355A>G

1 paper

NM_005067.7

p.S68A

c.202T>G

1 paper

NM_005067.7

p.G63del1

c.187_188delCCC

1 paper

NM_005067.7

p.L125Q

c.374T>A

2 papers

NM_005067.7

p.G62_G63del1

c.186_188delCCG

1 paper

NM_005067.7

p.G63A

c.188G>C

1 paper

NM_005067.7

p.G57V

c.170G>T