Varaico: Literature-Extracted Genetic Variants

Gene:WDR4
Variant:p.R17W

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
Selected Variant
1 paper
NM_018669.6
p.R17W
c.49C>T
Surrounding Variants
1 paper
NM_018669.6
p.R17insFs
c.50_51insC
1 paper
NM_018669.6
p.R17delFs
c.50delC
1 paper
NM_018669.6
p.L9insFs
c.27dupG
1 paper
NM_018669.6
p.A24S
c.70G>T
1 paper
NM_018669.6
p.L7insFs
c.19dupC
1 paper
NM_018669.6
p.L7L
c.19C>T
1 paper
NM_018669.6
p.M1_V5del5
c.1_14del15
1 paper
NM_018669.6
p.M1_A2delFs
c.1_5del5
1 paper
NM_018669.6
p.M1V
c.1A>G
1 paper
NM_018669.6
p.A42insFs
c.125dupC
1 paper
NM_018669.6
p.N50_K51insC
c.148_152ins3
1 paper
NM_018669.6
p.D54_A55del1
c.161_163delCGT
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