Varaico: Literature-Extracted Genetic Variants

WDR7

78 papers

RefSeq Summary

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD) that may facil...

Pfam Domains

WD40aa 14–47UCSCWD domain, G-beta repeat

WD40aa 54–95UCSCWD domain, G-beta repeat

WD40aa 454–498UCSCWD domain, G-beta repeat

WD40aa 550–588UCSCWD domain, G-beta repeat

WDR72_alpha-solaa 1008–1092UCSCWDR72, alpha-solenoid domain

Gene Aliases

HGNC Name

WD repeat domain 7

HGNC Alias Symbols

KIAA0541; TRAG

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_015285.3

p.R464Q

c.1391G>A

Surrounding Variants

1 paper

NM_015285.3

p.V467I

c.1399G>A

1 paper

NM_015285.3

p.P456A

c.1366C>G

1 paper

NM_015285.3

p.F492insFs

c.1476dupT

1 paper

NM_015285.3

p.F492L

c.1474T>C

1 paper

NM_015285.3

p.S493*

c.1478C>A

1 paper

NM_015285.3

p.S493*

c.1478C>G

1 paper

NM_015285.3

p.S493S

c.1479A>G

1 paper

NM_015285.3

p.T516S

c.1546A>T

1 paper

NM_015285.3

p.T516S

c.1547C>G

1 paper

NM_015285.3

p.G453R

c.1357G>C

1 paper

NM_015285.3

p.L450delFs

c.1349delT

1 paper

NM_015285.3

p.T438M

c.1313C>T