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.N315N

c.945T>C

Surrounding Variants

1 paper

NM_024100.4

p.G345D

c.1034G>A

1 paper

NM_024100.4

p.L361L

c.1083G>A

1 paper

NM_024100.4

p.E291K

c.871G>A

2 papers

NM_024100.4

p.V264I

c.790G>A

1 paper

NM_024100.4

p.G249R

c.745G>A

1 paper

NM_024100.4

p.G249R

c.745G>C

1 paper

NM_024100.4

p.G234fs

c.700_701fs

1 paper

NM_024100.4

p.K199_L200Splc

c.598-207G>T

2 papers

NM_024100.4

p.A172T

c.514G>A

1 paper

NM_024100.4

p.A156T

c.466G>A

1 paper

NM_024100.4

p.S368L

c.1103C>T

1 paper

NM_024100.4

p.A381D

c.1142C>A