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

1–12 of 193 variants

13 papers

NM_182758.4

p.S489_C490delFs

c.1467_1468delAT

10 papers

NM_182758.4

p.W978*

c.2934G>A

9 papers

NM_182758.4

p.P306L

c.917C>T

9 papers

NM_182758.4

p.R896*

c.2686C>T

8 papers

NM_182758.4

p.S783*

c.2348C>G

8 papers

NM_182758.4

p.W978*

c.2933G>A

7 papers

NM_182758.4

p.S783*

c.2348C>A

6 papers

NM_182758.4

p.L841Q

c.2522T>A

6 papers

NM_182758.4

p.S953delFs

c.2857delT

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