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

1–12 of 165 variants

2 papers

NM_015285.3

p.R464Q

c.1391G>A

2 papers

NM_015285.3

p.G1042D

c.3125G>A

1 paper

NM_015285.3

p.I10V

c.28A>G

1 paper

NM_015285.3

p.W13C

c.39G>C

1 paper

NM_015285.3

p.V35I

c.103G>A

1 paper

NM_015285.3

p.T36T

c.108A>T

1 paper

NM_015285.3

p.D40E

c.120C>A

1 paper

NM_015285.3

p.D47Y

c.139G>T

1 paper

NM_015285.3

p.L52L

c.156G>C

1 paper

NM_015285.3

p.Q53K

c.157C>A

1 paper

NM_015285.3

p.N55S

c.164A>G

1 paper

NM_015285.3

p.P56S

c.166C>T