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

5 papers

NM_139281.3

p.H355R

c.1064A>G

Surrounding Variants

1 paper

NM_139281.3

p.H355P

c.1064A>C

1 paper

NM_139281.3

p.Q349insFs

c.1045_1046insG

1 paper

NM_139281.3

p.G365E

c.1094G>A

1 paper

NM_139281.3

p.S343Splc

c.1028-40T>C

1 paper

NM_139281.3

p.S343Splc

c.1028-81T>C

1 paper

NM_139281.3

p.F318Y

c.953T>A

1 paper

NM_139281.3

p.R302_I303Splc

c.907-8C>G

1 paper

NM_139281.3

p.R302_I303Splc

c.907-78T>C

1 paper

NM_139281.3

p.R302_I303Splc

c.907-90A>G

2 papers

NM_139281.3

p.R302_I303Splc

c.906+92G>A

1 paper

NM_139281.3

p.R302_I303Splc

c.906+45C>G

1 paper

NM_139281.3

p.R302_I303Splc

c.906+38A>G