Varaico: Literature-Extracted Genetic Variants

Gene:WDR4
Variant:p.Y317C

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.Y317C
c.950A>G
Surrounding Variants
1 paper
NM_018669.6
p.V315_R318delFs
c.944_953del10
1 paper
NM_018669.6
p.L314insFs
c.940dupC
2 papers
NM_018669.6
p.L314fs
c.940_941fs
1 paper
NM_018669.6
p.P313T
c.937C>A
1 paper
NM_018669.6
p.Q323H
c.969G>T
1 paper
NM_018669.6
p.Q323H
c.969G>C
1 paper
NM_018669.6
p.W324delFs
c.970_971delCA
3 papers
NM_018669.6
p.Q310fs
c.928_929fs
2 papers
NM_018669.6
p.W304_C309insFs
c.911_927dup17
1 paper
NM_018669.6
p.Q307delFs
c.921delC
1 paper
NM_018669.6
p.W304delFs
c.912delC
1 paper
NM_018669.6
p.H290Y
c.868C>T
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