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.M292I

c.876G>T

Surrounding Variants

1 paper

NM_005067.7

p.M292I

c.876G>C

1 paper

NM_005067.7

p.M292I

c.876G>A

2 papers

NM_005067.7

p.R281H

c.842G>A

1 paper

NM_005067.7

p.N312D

c.934A>G

1 paper

NM_005067.7

p.R272Q

c.815G>A

1 paper

NM_005067.7

p.L265P

c.794T>C

1 paper

NM_005067.7

p.L250Q

c.749T>A

1 paper

NM_005067.7

p.A247fs

c.739_740fs

1 paper

NM_005067.7

p.F246_A247insFs

c.738_739insT

1 paper

NM_005067.7

p.Q222*

c.664C>T

1 paper

NM_005067.7

p.A215G

c.644C>G

1 paper

NM_005067.7

p.A191T

c.571G>A