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

1–12 of 116 variants

18 papers

NM_139281.3

p.K150I

c.449A>T

9 papers

NM_139281.3

p.N181Splc

c.542+30C>T

6 papers

NM_139281.3

p.V727V

c.2181A>T

5 papers

NM_139281.3

p.F33L

c.99C>G

5 papers

NM_139281.3

p.H355R

c.1064A>G

4 papers

NM_139281.3

p.R38H

c.113G>A

4 papers

NM_139281.3

p.S135T

c.403T>A

4 papers

NM_139281.3

p.A481Splc

c.1441+89G>A

4 papers

NM_139281.3

p.C599Splc

c.1797-30A>G

4 papers

NM_139281.3

p.Y784Splc

c.2351-75G>A

3 papers

NM_139281.3

p.E97_I98Splc

c.292-113G>A

3 papers

NM_139281.3

p.A443G

c.1328C>G