Varaico: Literature-Extracted Genetic Variants

Gene:WDR82
Variant:p.S124F

WDR82

20 papers

RefSeq Summary

TMEM113 (WDR82) is a component of the mammalian SET1A (MIM 611052)/SET1B (MIM 611055) histone H3-Lys4 methyltransferase complexes (Lee and Skalnik, 2005 [PubMed 16253997]; Lee et al., 2007 [PubMed 173...

Pfam Domains

WD40aa 11–49UCSCWD domain, G-beta repeat
Beta-prop_NOL10_Naa 57–267UCSCNucleolar protein 10-like, N-terminal domain

Gene Aliases

HGNC Name

WD repeat domain 82

HGNC Previous Symbol

TMEM113

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_025222.4
p.S124F
c.371C>T
Surrounding Variants
1 paper
NM_025222.4
p.S126fs
c.376_377fs
1 paper
NM_025222.4
p.R132*
c.394C>T
1 paper
NM_025222.4
p.L113_S114delFs
c.339_340delAC
1 paper
NM_025222.4
p.L113fs
c.337_338fs
1 paper
NM_025222.4
p.S126_D135delFs
c.376_403del28
1 paper
NM_025222.4
p.D180H
c.538G>C
1 paper
NM_025222.4
p.N214N
c.642C>T
1 paper
NM_025222.4
p.R219H
c.656G>A
1 paper
NM_025222.4
p.I221L
c.661A>C
1 paper
NM_025222.4
p.I272R
c.815T>G
1 paper
NM_025222.4
p.A298P
c.892G>C
1 paper
NM_025222.4
p.K108T
c.323A>C
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