Varaico: Literature-Extracted Genetic Variants

WDR72

124 papers

RefSeq Summary

This gene encodes a protein with eight WD-40 repeats. Mutations in this gene have been associated with amelogenesis imperfecta hypomaturation type 2A3. Alternative splicing results in multiple transcr...

Pfam Domains

WDR72_alpha-solaa 18–70UCSCWDR72, alpha-solenoid domain

WD40aa 53–93UCSCWD domain, G-beta repeat

WD40aa 451–495UCSCWD domain, G-beta repeat

WD40aa 547–585UCSCWD domain, G-beta repeat

WDR72_alpha-solaa 867–1084UCSCWDR72, alpha-solenoid domain

Gene Aliases

HGNC Name

WD repeat domain 72

HGNC Alias Symbol

FLJ38736

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_182758.4

p.T312S

c.935C>G

Surrounding Variants

1 paper

NM_182758.4

p.T312S

c.934A>T

1 paper

NM_182758.4

p.V314fs

c.940_941fs

1 paper

NM_182758.4

p.Q315*

c.943C>T

1 paper

NM_182758.4

p.N317N

c.951T>C

9 papers

NM_182758.4

p.P306L

c.917C>T

1 paper

NM_182758.4

p.V299insFs

c.896_897insT

1 paper

NM_182758.4

p.A295T

c.883G>A

1 paper

NM_182758.4

p.Q282*

c.844C>T

1 paper

NM_182758.4

p.G276S

c.826G>A

1 paper

NM_182758.4

p.T273T

c.819A>G

1 paper

NM_182758.4

p.W272*

c.816G>A

1 paper

NM_182758.4

p.W272*

c.815G>A