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.R979K

c.2936G>A

Surrounding Variants

10 papers

NM_182758.4

p.W978*

c.2934G>A

8 papers

NM_182758.4

p.W978*

c.2933G>A

1 paper

NM_182758.4

p.Q981R

c.2942A>G

1 paper

NM_182758.4

p.Q984R

c.2951A>G

1 paper

NM_182758.4

p.E961V

c.2882A>T

4 papers

NM_182758.4

p.R956*

c.2866C>T

6 papers

NM_182758.4

p.S953delFs

c.2857delT

3 papers

NM_182758.4

p.S953fs

c.2857_2858fs

1 paper

NM_182758.4

p.A941S

c.2821G>T

1 paper

NM_182758.4

p.S894_T900Fs

c.2680_2699delinsACTATAGTTFs

1 paper

NM_182758.4

p.R896delFs

c.2686_2687delCG

9 papers

NM_182758.4

p.R896*

c.2686C>T