Varaico: Literature-Extracted Genetic Variants

Gene:SMURF1
Variant:p.M1insFs

SMURF1

110 papers

RefSeq Summary

This gene encodes a ubiquitin ligase that is specific for receptor-regulated SMAD proteins in the bone morphogenetic protein (BMP) pathway. This protein plays a key roll in the regulation of cell moti...

Pfam Domains

C2aa 13–116UCSCC2 domain
WWaa 236–265UCSCWW domain
WWaa 308–337UCSCWW domain
WWaa 308–337UCSCWW domain
HECTaa 449–757UCSCHECT-domain (ubiquitin-transferase)

Gene Aliases

HGNC Name

SMAD specific E3 ubiquitin protein ligase 1

HGNC Alias Symbol

KIAA1625

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_181349.3
p.M1insFs
c.2dupT
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."