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.G127G

c.381A>G

Surrounding Variants

1 paper

NM_015285.3

p.G127A

c.380G>C

1 paper

NM_015285.3

p.H134R

c.401A>G

1 paper

NM_015285.3

p.P136S

c.406C>T

1 paper

NM_015285.3

p.Y117Y

c.351C>T

1 paper

NM_015285.3

p.V141L

c.421G>T

1 paper

NM_015285.3

p.E147K

c.439G>A

1 paper

NM_015285.3

p.L149L

c.447A>G

1 paper

NM_015285.3

p.S154S

c.462A>C

1 paper

NM_015285.3

p.K155E

c.463A>G

1 paper

NM_015285.3

p.S162N

c.485G>A

1 paper

NM_015285.3

p.R168Q

c.503G>A

1 paper

NM_015285.3

p.Q173*

c.517C>T