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

1 paper

NM_015285.3

p.F61L

c.183T>G

Surrounding Variants

1 paper

NM_015285.3

p.A58P

c.172G>C

1 paper

NM_015285.3

p.A58S

c.172G>T

1 paper

NM_015285.3

p.S66L

c.197C>T

1 paper

NM_015285.3

p.P56S

c.166C>T

1 paper

NM_015285.3

p.N55S

c.164A>G

1 paper

NM_015285.3

p.K72E

c.214A>G

1 paper

NM_015285.3

p.C74R

c.220T>C

1 paper

NM_015285.3

p.C74C

c.222T>C

1 paper

NM_015285.3

p.A75V

c.224C>T

1 paper

NM_015285.3

p.K79Q

c.235A>C

1 paper

NM_015285.3

p.V83G

c.248T>G

1 paper

NM_015285.3

p.E90K

c.268G>A