Varaico: Literature-Extracted Genetic Variants

Gene:WDR45B
Variant:p.V82Splc

WDR45B

38 papers

RefSeq Summary

This gene encodes a member of the WIPI or SVP1 family of WD40 repeat-containing proteins. The protein contains seven WD40 repeats that are thought to fold into a beta-propeller structure that mediates...

Pfam Domains

PROPPINaa 13–303UCSCPROPPIN

Gene Aliases

HGNC Name

WD repeat domain 45B

HGNC Previous Symbol

WDR45L

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_019613.4
p.V82Splc
c.245-735A>G
Surrounding Variants
1 paper
NM_019613.4
p.M83I
c.249G>T
1 paper
NM_019613.4
p.M83I
c.249G>C
2 papers
NM_019613.4
p.M83I
c.249G>A
1 paper
NM_019613.4
p.F98S
c.293T>C
1 paper
NM_019613.4
p.K106K
c.318G>A
1 paper
NM_019613.4
p.R108delFs
c.322delG
1 paper
NM_019613.4
p.R109*
c.325C>T
7 papers
NM_019613.4
p.R109Q
c.326G>A
1 paper
NM_019613.4
p.I120insFs
c.359dupT
1 paper
NM_019613.4
p.T126R
c.377C>G
1 paper
NM_019613.4
p.H127D
c.379C>G
1 paper
NM_019613.4
p.V134I
c.400G>A
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