Varaico: Literature-Extracted Genetic Variants

Gene:RNF181

RNF181

17 papers

RefSeq Summary

RNF181 binds the integrin alpha-IIb (ITGA2B; MIM 607759)/beta-3 (ITGB3; MIM 173470) complex and has E3 ubiquitin ligase activity (Brophy et al., 2008 [PubMed 18331836]).[supplied by OMIM, Dec 2008].

Pfam Domains

zf-RING_2aa 74–117UCSCRing finger domain

Gene Aliases

HGNC Name

ring finger protein 181

HGNC Alias Symbol

HSPC238

Papers
RefSeq ID
Protein change
DNA change
1–12 of 18 variants
3 papers
NM_016494.4
p.Y118H
c.352T>C
1 paper
NM_016494.4
p.S3insFs
c.7_8ins5
1 paper
NM_016494.4
p.E7K
c.19G>A
1 paper
NM_016494.4
p.E7*
c.19G>T
1 paper
NM_016494.4
p.T21I
c.62C>T
1 paper
NM_016494.4
p.E26Q
c.76G>C
1 paper
NM_016494.4
p.R29Splc
c.87-5C>G
1 paper
NM_016494.4
p.R29Splc
c.87-3C>A
1 paper
NM_016494.4
p.L40F
c.120G>C
1 paper
NM_016494.4
p.L40F
c.120G>T
1 paper
NM_016494.4
p.T57S
c.169A>T
1 paper
NM_016494.4
p.T57S
c.170C>G
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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."