Varaico: Literature-Extracted Genetic Variants

Gene:WDR4

WDR4

56 papers

RefSeq Summary

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may fac...

Pfam Domains

WD40aa 137–171UCSCWD domain, G-beta repeat
WD40aa 137–171UCSCWD domain, G-beta repeat
WD40aa 179–217UCSCWD domain, G-beta repeat
WD40aa 179–217UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit

HGNC Alias Symbols

TRM82; TRMT82; Wuho

Papers
RefSeq ID
Protein change
DNA change
1–12 of 98 variants
13 papers
NM_018669.6
p.R170L
c.509G>T
4 papers
NM_018669.6
p.R170Q
c.509G>A
3 papers
NM_018669.6
p.K71N
c.213G>T
3 papers
NM_018669.6
p.K71N
c.213G>C
3 papers
NM_018669.6
p.Q310fs
c.928_929fs
2 papers
NM_018669.6
p.V151_A152Splc
c.454-2A>C
2 papers
NM_018669.6
p.D164A
c.491A>C
2 papers
NM_018669.6
p.D166A
c.497A>C
2 papers
NM_018669.6
p.W304_C309insFs
c.911_927dup17
2 papers
NM_018669.6
p.L314fs
c.940_941fs
1 paper
NM_018669.6
p.M1V
c.1A>G
1 paper
NM_018669.6
p.M1_A2delFs
c.1_5del5
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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."