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

2 papers

NM_139281.3

p.R302_I303Splc

c.906+32T>C

Surrounding Variants

1 paper

NM_139281.3

p.R302_I303Splc

c.906+36C>T

1 paper

NM_139281.3

p.R302_I303Splc

c.906+38A>G

1 paper

NM_139281.3

p.R302_I303Splc

c.906+45C>G

1 paper

NM_139281.3

p.R302delFs

c.906delG

1 paper

NM_139281.3

p.D298N

c.892G>A

2 papers

NM_139281.3

p.R302_I303Splc

c.906+92G>A

1 paper

NM_139281.3

p.R302_I303Splc

c.907-90A>G

1 paper

NM_139281.3

p.R302_I303Splc

c.907-78T>C

1 paper

NM_139281.3

p.D244Splc

c.731-39T>G

1 paper

NM_139281.3

p.R302_I303Splc

c.907-8C>G

1 paper

NM_139281.3

p.F318Y

c.953T>A

1 paper

NM_139281.3

p.D244Splc

c.730+105A>G