Varaico: Literature-Extracted Genetic Variants

WDR36

99 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), which may fac...

Pfam Domains

Beta-prop_WDR36-Utp21_1staa 42–307UCSCWDR36/Utp21 first beta-propeller

Beta-prop_WDR36-Utp21_2ndaa 327–661UCSCWDR36/Utp21 second beta-propeller domain

Utp21aa 689–891UCSCUtp21 specific WD40 associated putative domain

Gene Aliases

HGNC Name

WD repeat domain 36

HGNC Previous Symbol

GLC1G

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_139281.3

p.E137Splc

c.410-27A>G

Surrounding Variants

18 papers

NM_139281.3

p.K150I

c.449A>T

2 papers

NM_139281.3

p.I151V

c.451A>G

1 paper

NM_139281.3

p.H156P

c.467A>C

1 paper

NM_139281.3

p.H156delins

c.467_468delinsCC

2 papers

NM_139281.3

p.S168N

c.503G>A

9 papers

NM_139281.3

p.N181Splc

c.542+30C>T

4 papers

NM_139281.3

p.S135T

c.403T>A

1 paper

NM_139281.3

p.G126D

c.377G>A

2 papers

NM_139281.3

p.N181Splc

c.543-25C>T

1 paper

NM_139281.3

p.A107V

c.320C>T

1 paper

NM_139281.3

p.G193R

c.577G>A

1 paper

NM_139281.3

p.V194del1

c.580_582delGTG