Varaico: Literature-Extracted Genetic Variants

WDR6

48 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 200–237UCSCWD domain, G-beta repeat

WD40aa 230–267UCSCWD domain, G-beta repeat

WD40aa 287–326UCSCWD domain, G-beta repeat

WD40aa 317–356UCSCWD domain, G-beta repeat

WD40aa 970–1010UCSCWD domain, G-beta repeat

WD40aa 1000–1040UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

WD repeat domain 6

HGNC Alias Symbol

Trm734

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018031.6

p.E859K

c.2575G>A

Surrounding Variants

1 paper

NM_018031.6

p.L835insFs

c.2504_2505insG

1 paper

NM_018031.6

p.R827H

c.2480G>A

1 paper

NM_018031.6

p.M863I

c.2589G>A

1 paper

NM_018031.6

p.M863I

c.2589G>C

1 paper

NM_018031.6

p.M863I

c.2589G>T

1 paper

NM_018031.6

p.D741D

c.2223C>T

1 paper

NM_018031.6

p.N925N

c.2775C>T

1 paper

NM_018031.6

p.R928Q

c.2783G>A

1 paper

NM_018031.6

p.D728N

c.2182G>A

1 paper

NM_018031.6

p.V679V

c.2037C>T

1 paper

NM_018031.6

p.T955delFs

c.2863delA

1 paper

NM_018031.6

p.G656R

c.1966G>A