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

2 papers

NM_003031.4

p.K15_C16insA

c.43_47ins3

Surrounding Variants

2 papers

NM_003031.4

p.S14W

c.41C>G

1 paper

NM_001006610.2

p.S50F

c.149C>T

1 paper

NM_001006610.2

p.L40fs

c.118_119fs

1 paper

NM_001006610.2

p.A39insFs

c.116dupC

2 papers

NM_003031.4

p.T7insFs

c.19dupA

3 papers

NM_003031.4

p.T7fs

c.19_20fs

3 papers

NM_003031.4

p.A6fs

c.16_17fs

3 papers

NM_003031.4

p.A24fs

c.70_71fs

2 papers

NM_003031.4

p.T5_A6insFs

c.15_16insA

2 papers

NM_003031.4

p.A24_L25delFs

c.71_75del5

1 paper

NM_003031.4

p.T28S

c.82A>T

3 papers

NM_003031.4

p.A30P

c.88G>C