Varaico: Literature-Extracted Genetic Variants

Gene:RNF181
Variant:p.Y118H

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
Selected Variant
3 papers
NM_016494.4
p.Y118H
c.352T>C
Surrounding Variants
1 paper
NM_016494.4
p.Y127D
c.379T>G
1 paper
NM_016494.4
p.R131_R132delFs
c.391_395del5
1 paper
NM_016494.4
p.K109_T110Splc
c.327+1G>C
1 paper
NM_016494.4
p.L97R
c.290T>G
1 paper
NM_016494.4
p.R143*
c.427C>T
1 paper
NM_016494.4
p.V58M
c.172G>A
1 paper
NM_016494.4
p.T57S
c.170C>G
1 paper
NM_016494.4
p.T57S
c.169A>T
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.R29Splc
c.87-3C>A
1 paper
NM_016494.4
p.R29Splc
c.87-5C>G
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