Varaico: Literature-Extracted Genetic Variants

Gene:WDR82

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
1–12 of 20 variants
1 paper
NM_025222.4
p.S6R
c.16A>C
1 paper
NM_025222.4
p.S6I
c.17G>T
1 paper
NM_025222.4
p.S6R
c.18C>G
1 paper
NM_025222.4
p.S6R
c.18C>A
1 paper
NM_025222.4
p.C50F
c.149G>T
1 paper
NM_025222.4
p.P55S
c.163C>T
1 paper
NM_025222.4
p.I85T
c.254T>C
1 paper
NM_025222.4
p.K108T
c.323A>C
1 paper
NM_025222.4
p.L113fs
c.337_338fs
1 paper
NM_025222.4
p.L113_S114delFs
c.339_340delAC
1 paper
NM_025222.4
p.S124F
c.371C>T
1 paper
NM_025222.4
p.S126fs
c.376_377fs
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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."