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.N763delFs

c.2288delT

Surrounding Variants

1 paper

NM_182758.4

p.K767*

c.2299A>T

1 paper

NM_182758.4

p.K767E

c.2299A>G

3 papers

NM_182758.4

p.D764_R768del5

c.2290_2303del15

2 papers

NM_182758.4

p.M778fs

c.2332_2333fs

2 papers

NM_182758.4

p.M778insFs

c.2332dupA

1 paper

NM_182758.4

p.Q779R

c.2336A>G

1 paper

NM_182758.4

p.Q779H

c.2337G>T

1 paper

NM_182758.4

p.Q779H

c.2337G>C

1 paper

NM_182758.4

p.K781E

c.2341A>G

8 papers

NM_182758.4

p.S783*

c.2348C>G

7 papers

NM_182758.4

p.S783*

c.2348C>A

2 papers

NM_182758.4

p.R784*

c.2350A>T