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

1 paper

NM_005067.7

p.S2R

c.4A>C

Surrounding Variants

1 paper

NM_005067.7

p.S2R

c.6C>G

1 paper

NM_005067.7

p.S2R

c.6C>A

1 paper

NM_005067.7

p.K17M

c.50A>T

1 paper

NM_005067.7

p.Q18L

c.53A>T

1 paper

NM_005067.7

p.P21P

c.63G>A

1 paper

NM_005067.7

p.T26A

c.76A>G

1 paper

NM_005067.7

p.P27R

c.80C>G

1 paper

NM_005067.7

p.S28A

c.82T>G

1 paper

NM_005067.7

p.A34A

c.102C>A

1 paper

NM_005067.7

p.A50T

c.148G>A

1 paper

NM_005067.7

p.A53T

c.157G>A

1 paper

NM_005067.7

p.G57V

c.170G>T