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

4 papers

NM_139281.3

p.S135T

c.403T>A

Surrounding Variants

1 paper

NM_139281.3

p.G126D

c.377G>A

1 paper

NM_139281.3

p.A107V

c.320C>T

1 paper

NM_139281.3

p.T101A

c.301A>G

2 papers

NM_139281.3

p.E97_I98Splc

c.292-47G>C

1 paper

NM_139281.3

p.E97_I98Splc

c.292-72T>G

3 papers

NM_139281.3

p.E97_I98Splc

c.292-113G>A

1 paper

NM_139281.3

p.E97_I98Splc

c.291+32C>T

1 paper

NM_139281.3

p.E97_I98Splc

c.291+13A>G

1 paper

NM_139281.3

p.E97A

c.290A>C

1 paper

NM_139281.3

p.E97G

c.290A>G

1 paper

NM_139281.3

p.K96I

c.287A>T

1 paper

NM_139281.3

p.R94L

c.281G>T