Varaico: Literature-Extracted Genetic Variants

WDR18

27 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 111–149UCSCWD domain, G-beta repeat

WD40aa 162–202UCSCWD domain, G-beta repeat

WD40aa 260–297UCSCWD domain, G-beta repeat

WDR18_Caa 383–430UCSCWDR18 C-terminal helix

Gene Aliases

HGNC Name

WD repeat domain 18

HGNC Alias Symbol

Ipi3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_024100.4

p.N60N

c.180T>C

Surrounding Variants

2 papers

NM_024100.4

p.I62V

c.184A>G

1 paper

NM_024100.4

p.L53V

c.157C>G

1 paper

NM_024100.4

p.R42R

c.126C>T

1 paper

NM_024100.4

p.Q38*

c.112C>T

1 paper

NM_024100.4

p.Q75_K76del1

c.224_226delAGA

1 paper

NM_024100.4

p.V115V

c.345C>T

1 paper

NM_024100.4

p.D132H

c.394G>C

1 paper

NM_024100.4

p.F136L

c.406T>C

1 paper

NM_024100.4

p.F136L

c.408C>A

1 paper

NM_024100.4

p.F136L

c.408C>G

1 paper

NM_024100.4

p.A156T

c.466G>A

2 papers

NM_024100.4

p.A172T

c.514G>A