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

3 papers

NM_182758.4

p.W126*

c.378G>A

Surrounding Variants

3 papers

NM_182758.4

p.W126*

c.377G>A

5 papers

NM_182758.4

p.M121I

c.363G>T

5 papers

NM_182758.4

p.M121I

c.363G>C

5 papers

NM_182758.4

p.M121I

c.363G>A

1 paper

NM_182758.4

p.Y133S

c.398A>C

1 paper

NM_182758.4

p.C113_Y114Splc

c.340-1G>C

1 paper

NM_182758.4

p.A141T

c.421G>A

1 paper

NM_182758.4

p.I138_H148del11

c.412_443del33

1 paper

NM_182758.4

p.R151G

c.451A>G

1 paper

NM_182758.4

p.P156S

c.466C>T

2 papers

NM_182758.4

p.I159_M162ins1

c.477_485dup9

2 papers

NM_182758.4

p.H166delFs

c.497delT