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

6 papers

NM_182758.4

p.L841Q

c.2522T>A

Surrounding Variants

1 paper

NM_182758.4

p.E836*

c.2506G>T

1 paper

NM_182758.4

p.S833A

c.2497T>G

3 papers

NM_182758.4

p.S858*

c.2573C>A

3 papers

NM_182758.4

p.L819F

c.2455C>T

2 papers

NM_182758.4

p.I816V

c.2446A>G

1 paper

NM_182758.4

p.S871insFs

c.2612dupC

1 paper

NM_182758.4

p.S871ins2

c.2612_2613ins6

1 paper

NM_182758.4

p.A876V

c.2627C>T

1 paper

NM_182758.4

p.L799fs

c.2395_2396fs

1 paper

NM_182758.4

p.L799delFs

c.2395_2396delAG

1 paper

NM_182758.4

p.L797delFs

c.2390_2391delCA

1 paper

NM_182758.4

p.K796delFs

c.2388delT