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

1–12 of 34 variants

2 papers

NM_018031.6

p.R587H

c.1760G>A

1 paper

NM_018031.6

p.A12P

c.34G>C

1 paper

NM_018031.6

p.G34C

c.100G>T

1 paper

NM_018031.6

p.I53M

c.159A>G

1 paper

NM_018031.6

p.L140V

c.418C>G

1 paper

NM_018031.6

p.A169T

c.505G>A

1 paper

NM_018031.6

p.E172K

c.514G>A

1 paper

NM_018031.6

p.L224P

c.671T>C

1 paper

NM_018031.6

p.A292T

c.874G>A

1 paper

NM_018031.6

p.Q297*

c.889C>T

1 paper

NM_018031.6

p.K352R

c.1055A>G

1 paper

NM_018031.6

p.G459C

c.1375G>T