Varaico: Literature-Extracted Genetic Variants

WDR49

22 papers

RefSeq Summary

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

Pfam Domains

WD40aa 393–431UCSCWD domain, G-beta repeat

WD40aa 521–561UCSCWD domain, G-beta repeat

WD40aa 618–651UCSCWD domain, G-beta repeat

WD40aa 750–789UCSCWD domain, G-beta repeat

WD40aa 806–845UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

WD repeat domain 49

HGNC Alias Symbol

FLJ33620

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001366157.1

p.K233R

c.698A>G

Surrounding Variants

1 paper

NM_001366157.1

p.S254C

c.761C>G

1 paper

NM_001366157.1

p.G260E

c.779G>A

1 paper

NM_001366157.1

p.E295E

c.885G>A

1 paper

NM_001366157.1

p.H188Q

c.564C>G

1 paper

NM_001366157.1

p.H188Q

c.564C>A

1 paper

NM_001366157.1

p.H188D

c.562C>G

1 paper

NM_001366157.1

p.P178H

c.533C>A

1 paper

NM_001366157.1

p.T176I

c.527C>T

1 paper

NM_001366157.1

p.H139L

c.416A>T

1 paper

NM_001366157.1

p.L135F

c.403C>T