Varaico: Literature-Extracted Genetic Variants

Gene:WDR4
Variant:p.K71N

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
3 papers
NM_018669.6
p.K71N
c.213G>T
Surrounding Variants
3 papers
NM_018669.6
p.K71N
c.213G>C
1 paper
NM_018669.6
p.F76_A77delFs
c.228_229delCA
1 paper
NM_018669.6
p.G62delFs
c.186delA
1 paper
NM_018669.6
p.S61R
c.183C>A
1 paper
NM_018669.6
p.K83K
c.249G>A
1 paper
NM_018669.6
p.R84H
c.251G>A
1 paper
NM_018669.6
p.I86N
c.257T>A
1 paper
NM_018669.6
p.D54_A55del1
c.161_163delCGT
1 paper
NM_018669.6
p.R89C
c.265C>T
1 paper
NM_018669.6
p.V98A
c.293T>C
1 paper
NM_018669.6
p.N50_K51insC
c.148_152ins3
1 paper
NM_018669.6
p.A42insFs
c.125dupC
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