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

13 papers

NM_182758.4

p.S489_C490delFs

c.1467_1468delAT

Surrounding Variants

1 paper

NM_182758.4

p.C490Y

c.1469G>A

4 papers

NM_182758.4

p.V491fs

c.1471_1472fs

3 papers

NM_182758.4

p.V491fs

c.1471_1472fs

1 paper

NM_182758.4

p.D486E

c.1458C>G

1 paper

NM_182758.4

p.D486E

c.1458C>A

4 papers

NM_182758.4

p.W494*

c.1481G>A

4 papers

NM_182758.4

p.W494*

c.1482G>A

2 papers

NM_182758.4

p.G485W

c.1453G>T

2 papers

NM_182758.4

p.S484A

c.1450T>G

1 paper

NM_182758.4

p.L483F

c.1449G>T

1 paper

NM_182758.4

p.E499K

c.1495G>A

1 paper

NM_182758.4

p.F505F

c.1515C>T