Varaico: Literature-Extracted Genetic Variants

Gene:WDR13
Variant:p.R253L

WDR13

31 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 207–245UCSCWD domain, G-beta repeat
WD40aa 444–481UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

WD repeat domain 13

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001347217.2
p.R253L
c.758G>T
Surrounding Variants
1 paper
NM_001347217.2
p.R253*
c.757C>T
1 paper
NM_001347217.2
p.L232L
c.696C>A
1 paper
NM_001347217.2
p.N274S
c.821A>G
1 paper
NM_001347217.2
p.R214P
c.641G>C
1 paper
NM_001347217.2
p.L213L
c.639A>C
1 paper
NM_001347217.2
p.N182S
c.545A>G
1 paper
NM_001347217.2
p.A181T
c.541G>A
1 paper
NM_001166426.3
p.A29V
c.86C>T
1 paper
NM_001347217.2
p.V277_V278Splc
c.832-35G>A
1 paper
NM_001347217.2
p.G298W
c.892G>T
1 paper
NM_001347217.2
p.R306P
c.917G>C
1 paper
NM_001347217.2
p.L318Q
c.953T>A
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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."