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.G193R

c.577G>A

Surrounding Variants

1 paper

NM_139281.3

p.V194del1

c.580_582delGTG

2 papers

NM_139281.3

p.N181Splc

c.543-25C>T

1 paper

NM_139281.3

p.D204E

c.612T>A

1 paper

NM_139281.3

p.I208V

c.622A>G

1 paper

NM_139281.3

p.S212delins

c.635_636delinsCC

1 paper

NM_139281.3

p.S212Fs

c.636delinsCCFs

1 paper

NM_139281.3

p.R230S

c.688C>A

1 paper

NM_139281.3

p.Q231insFs

c.691_692insAG

1 paper

NM_139281.3

p.Q231insFs

c.692_693insAG

9 papers

NM_139281.3

p.N181Splc

c.542+30C>T

1 paper

NM_139281.3

p.D244Splc

c.730+105A>G

2 papers

NM_139281.3

p.S168N

c.503G>A